Dr Sanjeev Kumar Digra
“A new baby is like the beginning of all things – wonder, hope, a dream of possibilities.” Said Eda J LeShan. Sonu and Pari were also extremely happy to be blessed with a newborn baby, a cute and plump baby, soft as cotton and pink as a rose. Young parents were busy in caring their infant , mesmerized with her cute smile and enchanting innocent cooing so much so that they didn’t even realize how time flew away and their baby was now three and a half months old the time for the 14 weeks vaccination. There in the clinic as the child specialist was examining their baby Pari could notice something on doctor’s face which was worrisome and with a nervous voice she asked,” Doctor, is every thing fine?” Doctor informed them that their baby was having anemia and her liver and spleen was enlarged. He scribbled down some investigations and advised them to get back to him with reports as early as possible. Samples were drawn and the couple spent that night without a single nap. Next day by afternoon they were back to their doctor’s clinic and whatever the doctor disclosed to them turned their lives upside down. The boundless happiness was now replaced with endless distress. Their child was diagnosed to have thalassemia, a congenital blood disorder.
This scenario is not that uncommon in India. The frequency of Beta-thalassemia trait in India is around 3.3% (1%-17%) in India. The most disturbing is the fact that this is happening even when this disease is preventable. Today on 8th of May, the annual world thalassemia day, let us disseminate awareness about thalassemia, its management and prevention.
Thalassemia is a genetic disorder of blood where globin part of hemoglobin is not produced properly, due to which life span of RBC’s is reduced and they start getting destroyed at a rate faster than normal and the child becomes anemic. To produce more and more RBCs bone marrow keeps on producing RBCs at a rate faster than normal to compensate for anemia, but in vain, as all these RBCs carry abnormal hemoglobin causing their early destruction. This ineffective extra effort on the part of bone marrow results in widening of bone marrow leading to typical thalassemeic facies like prominent frontal and parietal bones of skull , depressed nasal bridge and malar prominence. As bone marrow fails to produce normal RBCs, liver and spleen also try to produce RBCs resulting in their enlargement. Thus a thalassemic baby will require routine blood transfusion approximately 2-3 times in a month depending upon the need to maintain his/her hemoglobin above 10 gm%.
Broadly speaking Thalassemia can be classified in three groups Thalassemia minor, intermedia and major. Thalassemia minor or carrier or trait are the ones who have only one affected gene and they lead absolutely normal life. They can not be detected on mere physical examination. Their Hb remains above 9 gm% and they can be diagnosed only by doing HbA2 levels. Thalassemia intermedia group includes patients who are not dependent on blood transfusions for their survival hence known as Non Transfusion Dependent Thalassemia (NTDT). They maintain their Hb above 7.5 gm% without transfusion and usually present at the age of around 2 years. Although at times of stress like adolescence or infections they may require blood transfusion. Thalassemia major is the full blown disease characterized by the early onset of anemia at the age of 3-6 months, enlargement of liver and spleen, growth retardation and typical thalassemic facies. These patients are dependent on regular blood transfusion for their survival.
Management of thalassemia includes regular blood transfusion to maintain hemoglobin above 10 gm% as this saves vital organs like heart, liver, etc. from ill effects of chronic anemia and ensures normal growth. It also suppress bone marrow and hence will prevent the production of abnormal RBCs, thus preventing bony changes like malar prominence or frontal and parietal bossing. It also prevents enlargement of liver and spleen and if already enlarged it leads to their regression.
Due to repeated blood transfusion, excess of iron starts getting deposited in various organs, especially liver, heart and endocrinal glands. A rough estimate of stored iron can be made by measuring serum ferritin levels. Iron chelation drugs help in removing excess iron from body and should be started as soon as serum ferritin is 1000 ng/dl or more which usually happens after 10-15 blood transfusions. Three iron chelation drugs are available, Desferrioxamine is available as injections, Deferiprone ( Kelfer) as capsules and Deferasirox as dispersible tablets. Children find it easy to take Deferasirox dispersible tablets as it has to be taken empty stomach as a single daily dose and has least side effects, hence is the drug of choice these days.
With regular blood transfusions, maintaining Hb>10 gm%, adequate chelation and regular follow up these patients can live fairly normal and productive life. Although a definitive treatment or cure is available in the form of “stem cell transplantation” but in India it is still far from the reach of most of the patients due to its cost and difficulty in finding the matched donor.
The most important aspect is the prevention of Thalassemia. To understand preventive measures we must understand the inheritance of this disease. If both parents are carriers for thalassemia, there are 25% chances of a child being born with thalassemia major in every pregnancy. Therefore as soon as a couple comes to know about the pregnancy, mother should test herself for carrier state for thalassemia. She can be screened by doing simple tests like complete blood counts (CBC) and confirmed by HBA2 levels (>3.4% suggests carrier state). If mother is found to be a carrier then father should also be tested for carrier state. If both are found to be carriers then antenatal diagnosis can be made by doing chorionic villus sampling, amniocentesis or fetal blood sampling and genetic analysis around 10-11 weeks of gestation. If the fetus is found to be affected, parents may be counseled to terminate pregnancy. If mother is carrier and father is normal or vice-versa then there is no need of further investigations and pregnancy can be continued. Any couple already having a thalassemic baby must go for antenatal diagnosis in next pregnancy. Another way to prevent thalassemia is to disseminate awareness regarding this disease, premarital screening and counseling of all eligible persons and preventing the marriage of two carriers.
Now a few words for thalassemia patients regarding COVID-19 pandemic. These patients have poor immunity and hence are more prone to serious disease if infected with novel corona virus. Although the general precautions remain same for thalassemics too, but they need to observe them more strictly. They must follow:
* Frequent hand washing
* Avoid touching nose and mouth unnecessarily
* Strictly observing cough etiquettes like coughing in folded elbow or tissue and washing hands soon after.
* Social distancing
* Not leaving home without any strong reason.
* Continue regular blood transfusions to maintain Hb between 9.5 to 10.5 gms%
* Continue to take iron chelation drugs, folic acid and calcium regularly.
In these challenging times responsibility also lies on society to donate blood voluntarily so that these patients get sufficient and timely blood transfusions enabling them to lead a relatively normal and comfortable life.
(The author is Consultant I/C Thalassemia Day Care Center Department of Pediatrics SMGS Hospital, Government Medical College Jammu)
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