THALASSEMIA

A middle-aged couple was finally blessed with a lovely daughter, seven years into their marriage. The family were very happy with their new arrival, and things were pretty blissful in the first few months. As months passed by and the baby grew older, the child started to look pale and less active than the children at her age. A quick workup by the family paediatrician revealed anaemia (low haemoglobin on a blood count). This child was later diagnosed with thalassemia major, one of the common genetic disorders that can lead to impaired production of haemoglobin (anaemia) – a vital protein that carries oxygen to all organs in the body. Organs subsequently deficient of oxygen, slowly begin to fail over a period of time. This child thus soon started to require regular monthly transfusions to sustain an adequate amount of haemoglobin in the blood, as she grew. Monthly single transfusions over the years, turned to twice-monthly transfusions. By the age of 10 years, she had required more than 100 units of blood since her first diagnosis at six months of age. At ten years of age, she was also shorter with several skeletal deformities due to poor bony growth, a brown pigmented skin due to iron overload that accompanies every transfused blood, poor school performance due to repeated visits to the hospital and chronic fatigue, and in general much less active in comparison to a normal child of her age.

Not many know that every blood transfusion brings with it a potential risk of a variety of infections, although newer technologies have markedly negated its occurrence. In addition to the potential of infections, a fixed amount of iron accompanies each blood transfusion that is administered. Over a period of time in spite of best of the drugs that help in removing the excess iron in the body, iron still accumulates in the growing child’s organs, damaging it slowly but surely, and leading to defects like the stunting of growth, bronze skin, progressive heart and liver failure, and repeated infections. Overall, it’s a dismal course in the long run. Such children often develop progressive heart failure no sooner than entering the 3rd decade of their lives, and if unfortunate, get infected by viruses which lead to progressive liver failure and slow, steady death.

Thalassemia occurs to a genetic defect in alpha or beta genes that make up the haemoglobin, and a defect in either of the two can lead to a thalassemic syndrome. Thalassemias are one of the commonest inherited autosomal recessive defects in the world. Together with sickle cell anaemia, it has also been estimated that, worldwide, 9 million carriers become pregnant annually and 1.33 million pregnancies are at risk for a thalassemia major condition (Modell B, Darlison M. 2008; WeatherallDJ. 2010)

Other gene combinations can also lead to thalassemias. Severe alpha thalassemia results in an intrauterine death, which is the death of a baby before birth. Classic severe beta thalassemias manifest in a fashion, as depicted above. Minor thalassemias or better-called thalassemia traits are usually not symptomatic, and so often remain undetected.

A man and a woman, both if at least a trait or a carrier of the disease, have a 25% chance of creating an offspring with severe thalassemia (or thalassemia major). Considering our country’s population, the burden of this disease is very high. Thalassemia screening programs exist in our country, but it still hasn’t penetrated deeply into health care for every family. An aggressive awareness of its genetics is the key to prevent such morbidity. Every human being due to enter a marital life has a conscious responsibility to at least get a general health checkup focused on identifying such diseases. Screening programs help in identifying carriers early in life, and with the help of a team of haematologists and gynaecologists, navigate a way forward for the affected couple.

Several medications are helpful in a thalassemic child. Multivitamins and regular calcium supplements replenish the nutritional stores and improve impaired bone function. The excess damages secondary to the high iron can be controlled with drugs called iron chelators like deferiprone, deferasirox, and deferoxamine. Hydroxyurea helps in reducing the blood transfusion requirement in certain subtypes of thalassemia by increasing the haemoglobin (HB) F and thereby improving the oxygen delivery to all organs. All these medications need to be taken under supervision only.

Only a bone marrow or a stem cell transplant can cure thalassemia. It replaces the child’s defective genes, with genes of a normal individual and thereby arrests the natural course of a thalassemic. The transplant itself has its fair share of complications and needs an expert team of haematologists, pediatric intensivists, nurses trained in thalassemia transplant care. Thalassemia is a major cause of morbidity in our country, and only a cohesive, combined effort at all steps, will help in its early identification and cure!

This article is dedicated to the world thalassemia day and is only intended to create more awareness of its prevention, and an insight into its cure through bone marrow/stem cell transplants.