Dr Sanjeev Kumar Digra
A family of three had just welcomed another child into this world, however, their happiness was short-lived as the younger child too was diagnosed with thalassemia few months after birth. The parents had noticed the same pattern of progressive paleness as they had with their older child who had been diagnosed with the same condition.
Upon receiving the news, the family became hopeless and consulted a doctor. The parents had no idea that their second child could also have the condition and that there is a way to know about this during the pregnancy and that there are preventive measures available.
Thalassemia is one of the most common inherited diseases worldwide.India has the largest number of children with Thalassemia major in the world. There are about 1 to 1.5 lakhs individual with Thalassemia major and almost 42 million thalassemia carriers in India. About 10,000 -15,000 babies with thalassemia major are born every year.
Management of Thalassemia consists of regular blood transfusions to maintain haemoglobin above 10 gm%, adequate iron chelation to remove excess of iron from body once the child has received more than 10-15 transfusions or his/her serum ferritin is more than 1000 ng/ml which is an indication of iron over load, regular monitoring and early detection and timely management of any complication. Prevention of thalassemia is the critical component of any comprehensive program for thalassemia management.It has been proved by cost-benefit analysis studiesthat its prevention is cost effectivehence better than cure.
A comprehensive prevention program involves creating awareness about Thalassemia among the general masses, carrier detections, molecular diagnostics, genetic counselling, and prenatal diagnosis.
INFORMATION, EDUCATION &
AWARENESS:
In India, the National Health Mission Guidelines on Hemoglobinopathies for Prevention and Control of Hemoglobinopathies recommend the incorporation of NHM-IEC by Mass communication and media at the national, state and district level. The messages should spread knowledge about genetics and inheritance of this disease to remove any stigma or gender biases attached. Awareness should also be imparted regarding the prevalence of disease and the fact that it is preventable.It also recommends for inclusion of information about thalassemia in the school textbooks and school health programs.
The success stories of Thalassemia prevention programs in Mediterranean countries such as Cyprus and Italy are characterised by the dissemination of information and knowledge among health personnel as well as the general population.Knowledge of Thalassemia in common households was further enforced by including formal teaching on thalassemia in the educational curriculum at the end of secondary school.
CARRIER DETECTION:
A thalassemia carrier shows no signs or symptoms except for mild anaemia and leads a normal lifebut if gets married to another carrier can give birth to a child with thalassemia major disease. Although a carrier cannot be detected by appearance but can be detected by relatively simple blood tests. The ability for detection of carrier by simple and easy blood tests makes it possible for taking steps for controlling thalassemia by preventing the birth of affected children. Birth of affected child can be prevented by:
n Preventing marriage between two carriers
n Prenatal diagnosis in pregnancies of couples where both partners are carriers, with the option of termination of pregnancy in case of an affected foetus.
How to screen:
n Complete Blood Counts (CBC) -Low Haemoglobin (Hb), low (MCV), high RBC count, normal RDW is suggestive of Thalassemia carrier state.
n High-Performance Liquid Chromatography (HPLC)- Hb A2 levels of 4 or moremeans Definitive Thalassemia carrier
n HbA2 levels of 3.5 to 3.9 means borderline value.In this case if the spouse is a thalassemia carrier, then molecular testing is to be done to confirm the status.
Whom to screen:
n All pregnant women (first trimester)
n Siblings and relatives of Thalassemia major patients.
n Children and Adolescents with mild anaemia and suggestive red cell indices [Low Hb, low MCV, high RBC count, normal RDW]
n Young parents who have not been screened earlier and are desirous of having another baby
PRENATAL DIAGNOSIS:
Prenatal testing can detect whether the foetus is affected with thalassemia or not. Foetal samples for prenatal diagnosis can be collected by three methods under ultrasound guidance. The potential risks involved and benefits of these tests should be explained to the couple before the tests.
1. Chorionic villus sampling (CVS): A small sample of cells from the chorionic villi is taken which is then subjected to DNA analysis and a diagnosis is made. This test is done between 10-12 weeks of gestation.
2. Amniocentesis:Small amount of amniotic fluid, containing cells from the foetus is taken. This test is done after 16 weeks of gestation. It is suitable for patients who report late or in whom the foetal position does not allow CVS. The foetal cells are subjected to DNA studies to detect thalassemia disease in the foetus.
3. Fetal blood sampling (Cordocentesis): Between 18-20 weeks of gestation, a fetal blood sample is collected by cordocentesis (from umbilical cord) , cardiac puncture or from the hepatic vein. The sample is then analysed either by HPLC or by DNA analysis for detecting whether the foetus is affected or not.
In case the foetus is found to be affected the family is given the option of pregnancy intervention i.e., medical termination of pregnancy.
In Jammu Thalassemia Day Care Centre in Department of Pediatrics, SMGS Hospital, Jammu has more than 300 thalassemia patients registered with it. Free of cost blood transfusion facilities, iron chelation drugs and regular follow up is being provided to these patients. Facilities for screening tests for carrier state and antenatal diagnosis has recently been developed in this centre. Pregnant women visiting for their antenatal check-up in their first trimester are being screened for thalassemia trait.
In tandem with this year’s theme for World Thalassemia Day “Be Aware. Share. Care: Strengthening Education to Bridge the Thalassemia Care Gap”let us all take pledge to donate blood and share and spread the knowledge about thalassemia, its management and prevention.
(The author is Professor Coordinator Thalassemia Day Care Centre Department of Pediatrics, SMGS Hospital Government Medical College Jammu)
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