Sickle Cell Beta Thalassemia Disease – Information for Physicians and Other Health Care Providers

Posted on May 10, 2012 by Neha

Definition

Sickling hemoglobinopathies are inherited disorders that result in production of an abnormal form of hemoglobin. Beta thalassemias are inherited disorders that result in the decreased synthesis or complete absence of the beta globin chains of hemoglobin. Sickle cell beta thalassemia (Hb S/B Th) is an inherited form of sickle cell disease that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Individuals with sickle cell beta thalassemia have one abnormal beta chain, BS, and a defective beta-globin gene, either in decreased synthesis, B+, or complete absence of synthesis, B0.

Clinical Symptoms

The severity of the disease varies because the beta thalassemia gene may still produce a small amount of normal hemoglobin. If a small amount of normal hemoglobin, B+, is produced, an individual may have milder symptoms of sickle cell disease. However, if no normal hemoglobin, B0, is produced, an individual is almost clinically identical to sickle cell anemia.

Newborn infants are usually well. Hemolytic anemia and vaso-occlusive complications develop during infancy or early childhood.

Any sign of illness in an infant with sickling disease is a potential medical emergency. Acute and chronic tissue injury can occur when sickled cells cause vascular occlusion. Sickling diseases can cause severe pain anywhere in the body, but most often in the hands, arms, chest, legs and feet. Complications may include, but are not limited to, the following:

  • Sepsis – The first sign of infection may be a fever of 101 F or greater. These children require immediate medical attention. Children with sickle cell diseases are susceptible to pneumococcal infections.
  • Acute chest syndrome – A serious condition caused by infection and/or trapped sickled red blood cells in the lungs. Symptoms may include dyspnea, coughing and chest pain.
  • Hand-and-foot syndrome – This painful swelling of the hands and feet is due to severe vascular occlusion.
  • Splenic sequestration crisis – Early signs include pallor, enlarged spleen and pain in the abdomen due to accumulation of sickled cells within the spleen. This complication can result in circulatory collapse and shock, with sudden death, if not recognized and treated immediately.
  • Aplastic crisis – The bone marrow temporarily stops producing red blood cells, resulting in severe anemia. The child may appear pale, tired and less active than usual.
  • Stroke – Cerebral vascular occlusion due to sickled cells can affect even very young children. Any loss of consciousness or weakness in an extremity should be evaluated promptly.
  • Painful episodes – The pain of sickling disorders is acute and can be quite severe; even very young children may require prescription medications for pain relief.

Newborn Screening and Definitive Diagnosis

In Illinois, newborn screening for any sickle cell disease is performed by high performance liquid chromatography (HPLC) testing to determine the presence of abnormal hemoglobins (Hgb) in whole blood. Unaffected infants will have mostly fetal hemoglobin (Hgb F) and some adult hemoglobin (Hgb A). HPLC has been shown effective in detecting hemoglobinopathies characterized by synthesis of an abnormal hemoglobin molecule immediately after birth. A baby testing positive for sickle cell beta thalassemia will have higher than normal fetal hemoglobin Hgb F with Hgb S and little to no presence of adult hemoglobin (Hgb A). All abnormal newborn screening test results indicating a sickle cell disorder require appropriate confirmatory blood tests, sometimes including testing of parents and siblings for actual diagnosis. Even small transfusions may cause false negative screening test results and any results indicating that the baby was transfused require repeat testing 90 days after the last transfusion.Referral to a pediatric hematologist for evaluation and diagnostic testing is recommended within the first month of life and should not be delayed until the infant is older.

There are several recommended testing methods for diagnosis of hemoglobinopathies and thalassemias: Hemoglobin electrophoresis including both cellulose acetate and citrate agars (one is not sufficient), isoelectric focusing and high performance liquid chromatography are considered proven, reliable and accurate methods for defining an infant’s hemoglobin phenotype. All siblings of infants diagnosed with a hemoglobinopathy or thalassemia should be tested; genetic counseling services should be offered to parents.

Treatment

The National Institutes of Health clinical guidelines for management of sickle cell diseases state, “Penicillin prophylaxis should begin by 2 months of age for infants with suspected sickle cell anemia, whether or not the definitive diagnosis has been established.”Antibiotic therapy should continue until at least 5 years of age. Normal dosage for an infant is 125 mg of penicillin twice a day until 3 years of age, when dosage is increased to 250 mg twice a day. An alternative antibiotic is available for children who are allergic to penicillin therapy. Prescription pain medication also may be indicated during sickling crises. Health care monitoring and maintenance with appropriate immunizations is imperative to the health of the baby, and pneumococcal conjugate vaccine immunizations also are recommended, beginning at 2 months of age. Chronic blood transfusion therapy, followed by chelation therapy later in life to remove excess iron, may be necessary in severe cases.

Incidence

Combined sickle cell beta thalassemia disease is the most common form of sickle cell disease in people of Mediterranean descent, including people of Italian, Greek or Turkish heritage. This is because beta thalassemia is fairly common in the Mediterranean region, and people with the sickle cell gene inhabit some parts of these regions. Illinois started universal newborn screening for sickle cell diseases in 1989; each year approximately 100 infants are diagnosed with a form of sickle cell disease.

Inheritance Patterns

Sickle cell beta thalassemia is inherited in an autosomal recessive pattern. Sickle cell beta thalassemia occurs when one abnormal gene for the production of hemoglobin S is inherited from one parent and one abnormal gene for the production of beta thalassemia is inherited from the other parent. The genes for both hemoglobin and beta thalassemia are both located on chromosome 11. There is one gene for each on each chromosome 11, for a total of two. In hemoglobin S carriers, only one hemoglobin gene is abnormal. In beta thalassemia carriers, only one beta globin chain gene is abnormal. In sickle cell beta thalassemia disease, an individual has one abnormal hemoglobin gene and one abnormal beta thalassemia gene.

As an autosomal recessive disorder, the parents of a child with a sickle cell beta thalassemia disease are usually unaffected, healthy carriers of one of the conditions; having one normal gene and one abnormal gene for either sickle cell trait or beta thalassemia. Beta thalassemia carriers have a 50/50 chance to pass on the abnormal gene to their children. Sickle cell trait carriers have a 50/50 chance to pass on the abnormal gene to their children. A child of two carriers has a 25 percent chance of receiving two abnormal genes and developing the disease, and a 50 percent chance of being an unaffected carrier of either of the abnormal genes; either carrying the abnormal hemoglobin S gene only, or carrying the abnormal beta thalassemia gene only. There is also a 25 percent chance a child would receive two normal genes and is therefore unaffected and is not a carrier for either condition. These risks hold true for each and every pregnancy between a sickle cell carrier and a beta thalassemia carrier.

Genetic counseling services are recommended for individuals with sickle cell beta thalassemia and for those who carry either of the abnormal genes (sickle cell carrier or beta thalassemia carrier), particularly concerning future pregnancies. These individuals may have questions about the disorders that are best answered by hematology specialists and genetic counselors.

Physiology

Normal blood contains mostly hemoglobin A. Hemoglobin A is comprised of equal quantities of alpha-globin chains and beta-globin chains of hemoglobin. Hemoglobin A requires these globin chains in equal proportions to function and transport oxygen properly.

While beta thalassemia is caused by a defect in the beta-globin gene, controlling the production of the beta-globin chains of hemoglobin, sickle cell disease is caused by a defect in hemoglobin itself with the presence of abnormal hemoglobin S. In a person affected with sickle cell beta thalassemia, some of the red blood cells sickle in shape, subsequently hemolyzing resulting in anemia, which is a hallmark of sickling diseases. And because of the reduced production of beta-globin chains prevents the development of normal red blood cells, the production of both quantity and quality of red blood cells is affected. As a result, the sickled cells do not live as long as normal red blood cells, tend to get stuck in blood vessels and block flow of blood to certain parts of the body. These consequences can lead to poor growth, impaired physical activity, bone deformities, fragile bones and enlargement of the liver and spleen.

Key Points for Parents

Avoid overly alarming the child’s parents if the diagnosis has not yet been confirmed. If the child needs additional testing or diagnostic evaluation, make certain the parents understand the importance of following the pediatrician’s and/or specialist’s recommendations for additional testing and referrals. If results indicate the presence of sickle cell beta thalassemia disease, make certain the parents understand the importance of following the pediatrician’s and/or pediatric hematologist’s recommendations for additional testing and referrals.

Follow-up After Confirmation of Diagnosis

These guidelines should be followed after a diagnosis of sickle cell beta thalassemia disease has been confirmed:

  1. Regular visits to a comprehensive sickle cell program or a pediatric hematologist and strict compliance in antibiotic administration are crucial to the health and future well-being of the baby. Parents should understand the importance of twice-daily doses of prophylactic penicillin as an effective measure to reduce both morbidity and mortality from pneumococcal infections in infants with sickle cell beta thalassemia disease.
  2. Parents of infants with sickle cell beta thalassemia disease should be instructed in all aspects of routine child care. They should be able to accurately check the infant’s temperature. They must be able to recognize early symptoms of complications, including the warning signs of inactivity, fever, pallor and respiratory distress. Parents should be taught to palpate the infant’s spleen and to recognize splenic enlargement. Parents must understand the importance of prompt assessment of the infant by a pediatric hematologist when fever, pallor, unexplained irritability, diarrhea, vomiting or other signs of illness are present. Fever of 101 F or greater requires immediate medical evaluation.
  3. Provide a list of support services available in the community, such as the local health department and early intervention services. The Sickle Cell Disease Association of Illinois offers family support and educational services to the families of children and adults with sickle cell diseases. The association may be contacted at 312-345-1100.

 

 

Courtesy: Illinois Department of Public Health, Original article posted at http://www.idph.state.il.us/HealthWellness/fs/sickle_cell_beta_thalassemia.htm

 


Posted in abnormal hemoglobin, beta thalassemia, beta thalassemias, Blood disorders, bone marrow, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, defective beta-globin gene, Dried Blood Spot, Genetic Disorders, genetic mutation, hemoglobin, Hemoglobin electrophoresis, Hemoglobinopathies, Hemolytic anemia, high performance liquid chromatography, Infant, inherited disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborn Screening, Newborn Screening India, Newborns, Penicillin prophylaxis, rare disease, rare disease. rare disorders, rare disorders, red blood cells, Save Babies Through Screening, Save Babies Through Screening Foundation, SBTS, sepsis, Sickle Cell Anemia, Sickle cell beta thalassemia, Sickle Cell Disease, Sickle Cell in India, sickled cells, Sickling diseases, Sickling hemoglobinopathies, Stem Cell Bank, thalassemia | Tagged , , , , , , , , , , , , , , , , , | Leave a comment

Leading Newborn Screening Organization Announces Partnership to Support Advocacy on Global Level

Posted on May 3, 2012 by Neha

CINCINNATI, April 30, 2012 /PRNewswire/ – Save Babies Through Screening Foundation (SBTS), the only national volunteer-run nonprofit organization devoted exclusively to the advocacy of newborn screening (NBS), is pleased to announce a new partnership with World Solutions Against Infectious Diseases(WSAID). Since 2010, WSAID has been working on behalf of newborn screening programs, laboratories, professionals and most importantly, newborns and their families in Latin America.

“The partnership with WSAID represents our commitment to newborn screening advocacy on a global scale,” said Jill Levy-Fisch, President of SBTS. “Every newborn in the world deserves access to newborn screening, diagnosis, treatment and the best possible quality of life. Combining our broad experience and support for newborn screening with WSAID’s work with the medical community in Latin America is a crucial step toward achieving these goals.”

SBTS and WSAID will build awareness around comprehensive newborn screening and reliable infectious disease detection programs. Newborn screening is necessary to ensure that newborns do not die from diseases that are treatable if detected at an early stage. Through the partnership, SBTS and WSAID will work with countries in Latin America that currently lack newborn screening and seek to expand programs in countries where testing is limited to only a relatively small number of disorders.

“Save Babies Through Screening Foundation and WSAID share the goal of ensuring that newborn screening is available to all newborns and is performed with the highest standards of safety and quality control,” said Maria Corena McLeod, PhD, Chief Scientific Officer, WSAID. “We are committed to disseminating information regarding the importance of newborn screening around the world to make sure that parents and caregivers can provide the best possible care for their children.”

WSAID works with laboratories and newborn screening programs in South and Central America and is currently working to extend their efforts to programs and laboratories in Africa, Asia and other locations in need of support.

SBTS and WSAID’s combined efforts will help improve the health of newborns around the globe.

About World Solutions Against Infectious Diseases

WSAID was founded by two professionals sharing a common goal to fight infectious diseases and to help others around the world. The organization has worked tirelessly during the last three years with the help of a dedicated group of scientists, physicians, vector control personnel and engineers to build capacity to fight infectious diseases in Africa, South and Central America.  Although scientists and physicians in these countries have the knowledge and experience to detect and fight infection, lack of technology and resources constitute a challenge to their efforts. WSAID’s goal is to help them contribute to develop self-sustainable initiatives to fight infectious diseases and prevent disease transmission through an integrated approach that combines technology exchange and innovative educational programs. Recently, WSAID became involved in newborn screening because many of the disorders detected by newborn screening are related to infection. In addition, infectious diseases such as congenital HIV and toxoplasmosis (among others) are prevalent in developing countries and contribute to high infant mortality and diminished quality of life. These diseases can be detected early through newborn screening facilitating treatment, improved chances of survival and better quality of life for newborns. Furthermore, in this era of globalization and travel, the ability to detect and prevent diseases transmissible to the community highlights the importance of newborn screening programs in public health.

For more information about WSAID, please visit www.wsaid.org.

About Save Babies Through Screening Foundation

Comprised of volunteers whose lives have been touched by newborn screening (NBS), Save Babies Through Screening Foundation is the only advocacy organization in the country dedicated to NBS. SBTS aims to educate parents, pediatric healthcare providers and policy makers about available comprehensive NBS, the importance of obtaining positive or other test results requiring follow-up actions within five days of birth and the importance of prompt confirmatory testing and treatment/management when needed. The Foundation’s goal is to see that every baby born in the U.S. is screened successfully, effectively and comprehensively.

For additional information about SBTS, to learn how you can get involved in the cause and to share with families, please visit www.savebabies.org and connect with SBTS on Facebook and Twitter.

For further information, please contact:

Steven Pludwin
Ricochet Public Relations
spludwin@ricochetpr.com
(212) 679-3300 ext. 136

 

Courtesy: Yahoo Finance, Original article posted on April 30, 2012 at http://finance.yahoo.com/news/leading-newborn-screening-organization-announces-130000539.html

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, metabolic disease, Metabolic Disorders, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening Indian babies, Newborns, rare disease, rare disease. rare disorders, rare disorders, Save Babies Through Screening Foundation, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , | 1 Comment

To save a life, no amount is too much

Posted on April 10, 2012 by Neha

Sanjana Praveen Shivanka is 20 months old and has severe combined immunodeficiency (SCID). The Sri Lankan ‘bubble baby’, suffered from a condition which forced him to live in a sterile environment as his immune system was seriously compromised. Like 16 other boys in his mother’s family including his two older siblings, he inherited the condition. He is the first one to survive.

Praveen came a year ago to Chennai with funds raised by well-wishers in Sri Lanka for treatment.

The first bone marrow transplant came from his father, but as it was only a half match, it left him weak within a few months. He was frequently hospitalised and soon he weighed less than what he weighed at birth.

Praveen returned to India and the second time, he received an umbilical cord blood stem cell transplant from a Taiwanese donor. A third transplant, done four months ago, has cured him of the genetic disease. Praveen is weak and though he will survive, he must be protected from infection for several years to help him grow strong.

Finding a match for Praveen was a humungous task that involved a lot of money. The boy’s father makes mattresses in Ratnapura, a town three hours drive from Colombo. The entire treatment cost his family Rs. 80 lakh (around Rs. 1.50 crore in Sri Lankan currency).

“The first transplant was only a half match. It was necessary to have a 100 per cent Human Leukocyte Antigen match to build his immune system.

The perfect match for Praveen came from a Taiwanese cord blood donor and we had to pay $8,000 for it. If we were to import it from a US-based cord blood bank we would have paid $45,000. It is because we went through the Indian branch of the US-based cord blood bank that the cost was reduced,” said Revathi Raj, consultant paediatric haematologist, Apollo Specialty Hospital, who has been treating the toddler for the past year.

Only 30 per cent of the time are cord blood stem cell transplants from family members. The rest of the time, the transplants are from unrelated donors. “The advantage of using cord blood stem cells is that the child needs to be protected from infection for a shorter time as within three weeks the body produces new cells,” Dr. Revathi explained.

Although cord blood stem cell transplantation is done in some centres in India it is mostly unaffordable. Families have taken huge loans hoping to save their children’s lives. Stem cells are retrieved from cord blood that is discarded as biological waste after childbirth. The blood can be stored for 25 years and the stem cells recovered from it can be used to treat a variety of blood disorders.

There are a few cord blood banks even in India but given the large number of childbirths in the country, if we set up a public cord blood bank by investing a few lakh rupees we will be able to treat conditions such as bone marrow failure, thalassemia and sickle cell anaemia, Dr. Revathi says.

Stem cell transplantation is now a common treatment option for leukaemia. But, families often have to take huge loans for treatment as cord blood is difficult to access.

For instance, Vikram (name changed) took a loan of Rs. 45 lakh for his son, who had ALL and AML leukaemia. During the course of his child’s treatment for leukaemia at Apollo Hospital, which lasted six years (the child was diagnosed with the disease when he was a year old) he moved several jobs in search of money to cover treatment costs.

In one company, the health insurance was large enough to cover hospital expenses but the two cord blood stem cell transfusions that his child required cost him Rs. 12 lakh. He took several bank loans besides an advance from his workplace.

 

Courtesy: The Hindu, Original article posted on April 4, 2012 by R. SUJATHA at http://www.thehindu.com/news/cities/chennai/article3278348.ece

Posted in Born Marrow, Bubble Boy disease, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, Dried Blood Spot, Genetic Disorders, Inborn Errors of Metabolism, inborn metabolic syndrome, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, SCID, Severe Combined ImmunoDeficiency, Stem Cell Bank, Stem Cell Transplant, Stem Cell Transplants, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | Leave a comment

Three drops of blood to ward off mental retardation

Posted on March 27, 2012 by Neha
TNN | Mar 27, 2012, 06.33AM IST

 

LUCKNOW: Doctors associated with the newborn screening programme stressed upon the need to rope in gynaecologists and paediatricians working privately. The programme started by department of medical genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences in association with Queen Mary Hospital of Chhatrapati Shahuji Maharaj Medical University, aims to identify three genetic disorders.

Under this, newborns are screened for congenital hypothyroidism, galactosemia, and biotin deficiency disorder so that they could be saved from mental retardation. For the purpose, three drops of blood are drawn from the newborn’s heel and sent for testing. As of now, the service is being provided free of cost, but once the grant from the funding agency (department of biotechnology in this case) ceases, the test would cost anything between Rs 300 and 500. The programme is spread across Veerangana Avanti Bai, Jhalkari Bai and Ram Manohar Lohia’s women hospitals in the city. Government hospital Barabanki and Bal evum Mahila Chikitsalaya, Khairabad Sitapur are also a part of the programme.

Talking to reporters on the occasion of mid-term review of the programme, HoD, medical genetics, SGPGI, Prof Shubha Phadke said, “So far, we have been able to screen 7,000 children. Of them four children tested positive for congenital hypothyroidism, while one was born with biotin deficiency disorder. This is in consonance with the national average for genetic diseases (1/1,000 children).” Dr Vinita Das who heads Queen Mary Hospital said, “Early identification can help children lead a normal life. Also, treatment in all these diseases is quite cost-effective. In case of congenital hypothyroidism and biotin deficiency disease, replacement therapy can help, while in galactosemia, enzyme correction therapy is prescribed.”

Prof Phadke said that as of now, the test is conducted free of cost. But there is need to think seriously in terms of checking preventable mental retardation in children. “The authorities must come forward for a larger cause once the pilot project is over,” she said. “Associations like FOGSI (a national body to private gynecologists) and private doctors can play a major role in generating awareness for the preventable causes of disability,” she said.

 

Courtesy: Times of India, Original article posted on March 27, 2012 at http://timesofindia.indiatimes.com/city/lucknow/Three-drops-of-blood-to-ward-off-mental-retardation/articleshow/12422770.cms

Posted in BIOT, Biotin Deficiency, Biotinidase, CH, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , , , , , , , , , , | 1 Comment

Newborn Screening- Information on some of the common Disorders

Posted on March 19, 2012 by Neha

1. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – the enzyme Glucose-6-Phosphate dehydrogenase is an important enzyme in the metabolic pathway of red blood cells. Without this enzyme, red blood cells are prone to lysis/damage and will eventually lead to anemia for the patient. They are usually asymptomatic, but they have a long list of triggers that could clinically manifest the disease. Triggers include your anti-malarias, beans, certain antibiotics, etc. G6PD patients usually have the list with them because they are quite hard to memorize.

2. Congenital Hypothyroidism – as the name implies, this is lack of thyroid hormone which is essential in the growth of the baby. If undiagnosed, your child will eventually have stunted growth and eventually will lead to mental retardation. With early detection, proper treatment could be initiated to prevent the dreadful complications.

3. Congenital Adrenal Hyperplasia – this endocrine disorder causes severe salt wasting, dehydration and an increase in sex hormones. Babies with this condition usually present with ambiguous genitalia. Male babies could present with female organs and vice versa. If left untreated, this condition could be fatal for the baby.

4. Galactosemia – is a metabolic disorder wherein the baby could not process “galactose” a type of sugar usually found in milk. Since the body could not use galactose, it would eventually pile up and lead to liver and brain damage for the baby. Early detection is essential for this metabolic disorder.

5. Phenylketonuria – is a metabolic disorder wherein the baby could not metabolize the amino acid “phenylalanine” due to lack of the enzyme “phenylalanine hydroxylase”. This disease could lead to brain damage and mental retardation if untreated. They usually present with a musty odor either in their sweat or in the urine. Early diagnosis is crucial for this disease.

 

(Courtesy: Hub Pages, Excerpts from http://jhunpaler.hubpages.com/hub/New-Born-Screening-Give-Your-Child-a-Fighting-Chance)

 

Posted in BIOT, Biotinidase, CAH, CF, CH, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Cystic Fibrosis, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Newborn, Newborn Deaths, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2 Comments

Restarting Newborn Screening Newsletter

Posted on March 13, 2012 by Neha

We have restarted the Newborn Screening newsletter, after a hiatus of more than 12 months. A lot of you told us that you missed the newsletter and enjoyed reading it. Our goal is to keep it at 2 pages of content with an additional page describing our panels. We plan to get out an issue once a month.

Copies of all our newsletters are available on our website at, http://www.neogenlabs.com/newsletters.php

Please email us at info@neogenlabs.com if you want to be added to our Newsletter list.

Posted in Inborn Errors of Metabolism, inborn metabolic syndrome, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , | Leave a comment

Visit to Mayo Clinic’s Mayo Medical Laboratories and PerkinElmer Genetics Lab

Posted on March 13, 2012 by Neha

Dr. Cariappa and Ms. Guhathakurta from NeoGen Labs attended the “Laboratory Quality Improvement of Newborn Screening by Tandem Mass Spectrometry” at Mayo Clinic, Rochester. The course was conducted by Dr. Piero Rinaldo, one of the world’s foremost authorities in Newborn Screening. Incorporating the techniques learnt from the course will improve our interpretation of the testing results.

The Mayo Clinic lab also does a 2nd Tier Testing and DNA analysis for IEMs and NeoGen Labs can send samples to them on behalf of doctors in India. The lists of tests are available www.mayomedicallaboratories.com/test-info/biochemical/alphabetical.html

Interesting Note: Dr. Rinaldo was a key defense witness in proving the innocence of Patricia Stallings, who was convicted of murdering her baby by ethylene glycol poisoning. He was able to prove that the infant died due to Methylmalonic Acidemia (MMA). More information on this case is at, discoverysedge.mayo.edu/childhood_diseases/index.cfm

They also spent a few days at the PerkinElmer Genetics Lab in Bridgeville. This is the lab we are benchmarked against and is one of the best screening labs in the world. Again, we are incorporating some of their advances (including detection of succinylacetone, argininosuccinic acid (ASA) and a more quantitative measurement of the amino acid glycine) into our testing. These changes should be in place in the next three months.

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, genetic mutation, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Mayo Clinic, metabolic disease, Metabolic Disorders, methylmalonic acidemia, Methylmalonic Acidemia (MMA), Neonatal Screening, Newborn, Newborn Screening, Newborns, Perkin Elmer Genetics, Perkin Elmer Genetics Lab, PerkinElmer Genetics, PerkinElmer Genetics Lab, rare disease, rare disease. rare disorders, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , | Leave a comment

Qatar soon to have Newborn Screening programme

Posted on March 7, 2012 by Neha

Tuesday, 6 March, 2012

By Huda NV

DOHA: Qatar is set to establish a newborn screening project to identify children born with severe immune deficiency. The project in collaboration with the Heidelberg University Hospital will begin by the end of the year, according an expert.

Hamad Medical Corporation recently held a gala event to mark more than ten years of successful cooperation and partnership with Heidelberg University Hospital. Currently some seven projects including the newborn screening programme for Metabolic and endocrine Diseases are done in collaboration with the German institute.

“The longstanding partnership has produced so many successful programmes that has given extremely good outcomes for our patients in terms of diseases diagnosis and management, also their survival. Through these collaborations, we aim to implement world class cutting edge programmes in healthcare and also at quick transfer of science and technology to Hamad,” said Dr Hilal Al Rifai, Director of Neonatal Intensive Care and Director of Newborn Screening, HMC.

HMC has finished the transfer of technology and expertise in metabolic and endocrine disease screening and in sickle cell. Currently, these tests can be performed in HMC laboratory and physicians here are capable of managing all these disorders.

Also, a new method of treating these diseases other than using medicines or special diets has been started at HMC. This is done by injecting of liver cells that contains the normal activity of enzymes to replace the deficient body cells in patients affected by inherited diseases.

“Now, we have finished all the preparations to add early identification of immune deficiency through these programmes that will put Qatari programme the first and only programme in being so comprehensive and inclusive. Immune deficiency is not universally tested anywhere else in the world, and we will do it by the end of the year,” he said.

Immunity screening programme is also of equal importance to Qatar, according to an expert. “The project is aimed to identify children born with severe immune deficiency, so that the interventions can be made much earlier than when they get seriously ill. This will also help early treatment which is usually bone marrow transplant,” said Dr Andreas E Kulozik, Head of Paediatric Oncology, Haematology and Immunology.

“We have been doing the tests for many years. We know that in communities where there are many consanguineous marriages, the frequency of these genetic diseases is higher than the world average,” he said. From December 2003, more than 222,000 babies have undergone new born screening programme for metabolic and endocrine diseases and 317 cases including 30 cases of homocystinuria has been detected. Also, since May 2006 screening for sickle cell disease is being done and some 71,000 babies have been screened, from which, 19 cases of sickle cell and 700 carriers were found.

“Through the screening, we have been able to save so many children and without our intervention, they would have been died and be severely handicapped. Collaboration has been going on for some ten years now,” said Dr Georg F Hoffmann, Chairman of Peadiatrics, Heidelberg University Hospital. “We have helped with bone marrow transplant unit here. Quiet number of patients is coming to Heidelberg for transplants. Now as the next step, we are more focused on transition of the medical technology to Qatar and continuing medical education. For long term, we intend to train the research abilities of the units here; it can take some time, but we intend to have collaborative clinical trials with HMC in oncology,” said Dr Anthony D Ho, Chair and Professor, Department of Medicine, University of Heidelberg.The Peninsula

 

 

(Courtesy: The Peninsula, Original article posted on March 6, 2012 at http://www.thepeninsulaqatar.com/qatar/186008-qatar-soon-to-have-newborn-screening-programme.html)

Posted in CAH, CH, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborn Screening Qatar, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , , , , , , , | Leave a comment

Nehru Science Centre to celebrate international Rare Disease Day on Feb 29 in Mumbai

Posted on February 28, 2012 by Neha

Monday, February 27, 2012, 15:45 Hrs  [IST]

Nehru Science Centre, Mumbai, is going to celebrate Rare Disease Day with the afflicted patients suffering from Lysosomal Storage Disorders (LSDs) and geneticists from across the country comprising more than 100 patients/ parents, on February 29 in Mumbai.

LSDs fall under the category of rare diseases, the incidence of treatable LSDs ranges from 1 in 30,000 to 1 in 400,000 births. In India, around 500 babies are likely to be affected every year by treatable LSDs. Few LSD patients are lucky enough to receive external aid.

The concerted efforts of the recently formed LSD patients’ society (Lysosomal Storage Disorders Support Society) and their caregivers, awareness on LSDs is growing. This awareness on these diseases in the country is quite low, observing Rare Disease Day each year is a step to educate the general masses.

Speaking about the occasion, Dr Seema Thakur, senior consultant in Department of Clinical Genetics and Fetal medicine, Fortis Healthcare Management, New Delhi, said, “Rare Disease Day is being observed for third time in India. Such events awareness level has increased and that is helping sufferers in getting correct diagnosis and treatment on time. The Government’s support is essential for treatment of such diseases, which could be done by setting up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy, and rehabilitation to make patients’ lives more comfortable.”

Based upon the ‘Solidarity’ theme, the event has been planned to promote the idea of dealing with the rarity of such diseases by ensuring the togetherness of patients and caregivers of children suffering from rare diseases of all categories.

A disease is termed rare if it affects less than one person in 5,000. Diseases such as Gaucher, Pompe, Fabry, MPS, and suchlike belong to a category of rare diseases called Lysosomal Storage Disorders (LSDs). Because of the rare nature of these conditions, awareness of such diseases in the community is extremely low and few medical professionals specialize in them, making it more difficult for patients seeking medical aid.

LSDs are a group of approximately 45 rare inherited metabolic disorders that result from defects in lysosomal function. It results when a specific organelle in the body’s cells – the lysosome – malfunctions. It affects mostly children, who often die at a young, unpredictable age, many within a few months or years of birth. Its symptoms include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some patients with LSD have enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.

The LSD Support Society (LSDSS) is a group comprising people – patients, families and caregivers – who know what it’s like to live with LSDs. It aims to create a strong voice for LSD patients in India by forming a strong national support group.

(Courtesy: PHARMABIZ.com, Original article posted on Feb 27, 2012 at http://pharmabiz.com/NewsDetails.aspx?aid=67729&sid=2)

Posted in Congenital Disorders, Genetic Disorders, Inborn Errors of Metabolism, Infant, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , | 1 Comment

Restarting NBS News Newsletter in Feb 2012

Posted on February 25, 2012 by Admin

We have restarted the NBS News letter from February 2012, after a hiatus of over 12 months. Many of you had written to us and let us know that the newsletter was missed. We hope to get one out every month with the goal of making it an easy read.

If you have not received it but would like to be added to the mailing list, please send an email to newsletter@neogenlabs.com. The newsletter will also be available on the website, soon after it has been mailed out.

Let us know what topics you would like to address in the newsletter. Your feedback is appreciated.

Posted in Genetic Disorders, Inborn Errors of Metabolism, Metabolic Disorders | Leave a comment