Beta Thalassemia

Beta thalassemias, ranges from very severe to having no effect on health. There are three kinds of beta thalassaemia.

Thalassemia Major, the most severe form, is also called Cooley's anemia, named after the doctor who first described it in 1925.

Thalassemia Intermedia are associated with moderate anemia usually diagnosed after 3 years to 15 years of age. Normally they maintain heamoglobin level around 7gm without transfusion. They require occasional transfusion during puberty, infection, pregnancy etc.

Thalassemia Minor (also called thalassemia trait or carrier) does not present any symptom. Some may have mild anemia. 

Causes of Beta Thalassaemia

Beta thalassemias are caused by mutations on chromosome 11.

When two carriers marry, there is a one-in-four chance that the child may inherit a thalassemia gene from each parent and have a severe form of the disease. There is a two-in-four chance that the child will inherit one affected and one normal gene and become a carrier like parents; and a one-in-four chance that the child will inherit normal genes from both parents and be completely free of the thalassemia genes (i.e. not even a carrier). These odds are the same for each pregnancy when both parents are carriers.

What is thalassaemia

 

Symptoms of Beta Thalassaemia 

Beta Thalassaemia Trait (Carrier)

There are usually no symptoms and the person is perfectly healthy. It may cause mild anaemia. This cannot be treated by increased iron intake however, iron can be taken after knowing the iron status. Pregnant women need as much iron as non thalassemia carriers.

Beta Thalassaemia Major

Between birth and three to six months, the baby with Beta thalassaemia major will appear normal and quite healthy. The baby will then begin to show symptoms of progressive anaemia (they become pale). There may be shortness of breath, jaundice and an enlarged spleen.

Without treatment the child will be pale, lethargic and breathless. There may be yellowing (jaundice) of the eyes and skin due to excessive breakdown of red blood cells. With poor treatment growth may be delayed, spleen may be enlarged and death will occur early in childhood.

Beta Thalassemia Intermedia

Children with thalassemia intermedia may develop some of the same complications, although in most cases, the course of the disease is mild in first decade of life.

Treatment of Beta Thalassemia

Treatment for Beta thalassaemia major involves having regular blood transfusions, which take place every two to four weeks, depending on the severity of the anaemia. Excess iron builds up in the body from these regular transfusions causing iron overload. If this is left untreated, it will lead to a condition called haemosiderosis. This can cause serious long-term damage such as endocrine problems, heart failure and liver failure.

Iron overload is kept under control by treatment with a medicines called iron chelators. There are 3 iron chelators in the market, each have its own benefits and side effects. Desferrioxamine the oldest iron chelator has to be given by injection, usually by a slow infusion under the skin with the help of a pump over eight to twelve hours. Usually it is given 5 to 6 days a week. It should not be taken during fever and infections.

Deferipone another iron chelator the first of its kind to be taken orally to treat iron overload. Strict monitoring by Hb, TLC, DLC, Platelet every month is necessary during this treatment and earlier in case of infection or fever. If TLC (WBC count) <3000cmm, Neutrophil count <1000cmm & or Platelet <100000cmm The medicine should be stopped immediately and a Thalassemia expert be consulted.

Deferasirox is the third iron chelator to be taken once in a day empty stomach. This can be taken from 2 yrs of age, easy to administer and comparatively safe. During Deferasirox treatment CBC (Hb, TLC,DLC, Platelet), SGOT, SGPT, Urea Creatnine and Urine Protein should be checked every month.

Serum Ferittin should be checked atleast once in 3 months during any of the above three chelation therapy and dose be adjusted accordingly.

HbSAg, HCV and HIV should be checked once in a year. Thyroid, Diabetes and Cardiac T2* are necessary every year after age of 10 yrs. Puberty should be evaluated from the age of 12 years in females and 13 years in males

Liver spleen size and growth should be monitored once in 3 months from start of the treatment.

Treatment of thalassaemia intermedia is individualized and vary from person to person.