DR. K.K. KOUL
100 years ago in 1925, the first description of Thalassaemia in medical literature was given by Thomas Benton Cooley (American Pediatric Hematologist). He was studying some pediatric patients (Children, Primarily of Italian descent) who presented with severe anemia along with enlarged liver and spleen & bone deformities (Cooleys Anaemia, later confirmed as ? – Thalassaemia major). However,the name “Thalassaemia” was coined by George Hoyt Whipple (American Pathologist) in 1932. He derived the term from Greek words – ‘Thalassa’ (meaning Sea) & ‘emia’ (Latin word meaning blood) reflecting the high prevalence of the condition in people of Mediterranean descent. Thalassa was the general word for ‘Sea’ & for its divine female personification in Greek mythology.
Thalassemia is not a single disease entity. In essence it is a syndrome because it is a collection of related genetic disorders with a common underlying cause (defective globin chain production) but with a wide spectrum of clinical manifestations. So, thalassemia syndromes are a heterogenous group of inherited anaemias characterized by defects in the synthesis of one or more of the globin chain sub-units of Hb tetramer. It results into (a) inadequate Hb production (hypochromia & microcytosis) and (b) imbalance accumulation of globin sub-units (ineffective erythropoiesis / premature destruction of erythroid precursors in the bone marrow) haemolytic anaemia.
WORLD THALASSEMIA DAY was established to honour individuals living with thalassemia and to raise awareness about the condition. It is observed annually on May 8, a date chosen by the Thalassaemia international Federation (TIF) in memory of George Englezos, the son of TIF’s founder, who lost his life to the disorder. The theme for World Thalassemia Day 2025 according to TIF is “Together for Thalassaemia: Uniting Communities, Prioritizing Patients”. This theme emphasizes the importance of a patient-centered approach, highlighting the need for holistic care that addresses not only the medical but also the emotional and social needs of individuals living with thalassemia.
BURDEN OF THE DISEASE: Worldwide – 10 crore persons carry the gene for thalassemia &> 300,000 babies are born annually with the severe form of the disease (Thalassemia major). In India – Prevalence vary between 3-17%, average near 4%. Over 5 crore persons are carriers & 12000-15000 ? thalassemia Major (T.M) are born annually (one T.M born after every 40 min.) one lake to one lakh 50 thousand thal. patients are getting some form of treatment. BMT: India has 35 BMT (Bone Marrow Transplant) centres. BMT has been performed in 3206 patients from 1983 to 2022.
The most common type of thalassemia in India is ? thalassemia. The four clinical types are:
a) Silent carrier (Asymptomatic, No hematological abnormalities)
b) Trait/minor (Borderline asymptomatic anaemia, Microcytosis and hypochromia)
c) Intermedia (Late presentation, Mild-moderate anaemia, Transfusion-independent; Clinical severity is variable and ranges between minor to major)
d) Thal. Major (Early presentation usually after 6 months of age, Severe anaemia, Transfusion-dependent). It is a lifelong treatment. Thalassaemia major if untreated or inadequately treated presents with Craniofacial & orofacial deformities (Hyperplastic marrow), protrusion of abdomen, marked liver & splenic enlargement, several other complications. The complications are due to the disease process itself and also as a result of treatment. Life span is short and thus regular follow up is important.
It is autosomal recessive disease – a genetic condition caused by inheriting two copies of a mutated gene (located on one of the 22 non-sexchromosomes called autosomes), one from each parent. Individuals with only one copy of the mutated gene are called carriers (traits) & do not usually show symptoms. Two copies of mutated genes are needed to cause the disease (one mutated gene from each parent). If both parents are carriers (have one mutated gene & one normal gene), there is a 25% chance their child will inherit two mutated genes & develop the severe form of the disease – Thal. major; a 50% chance the child will be a carrier and 25% chance the child will inherit two normal gene and not be affected.
The main problem lies in conservative management of ? Thalassemia major which includes lifelong regular safe blood transfusion, iron chelating agents and multispecialty care. The average annual cost per patient of this treatment vary from Rupees one lack to one lack 50 thousand.Cure is possible only with a successful transplant & the overall cost in India varies widely ranging from Rupees 15 lakhs to 40 lakhs depending upon the type of transplant (autologous, allogenic and haploidentical transplant). Gene therapy in India is underway and is still in the experimental and research phase. Thus, prevention of birth of a Thalassemia major child is important.
Thus, knowing Thalassaemia carrier status is must for everyone especially for those who are unmarried; married couples who are planning the family and all the antenatal mothers should go for Thalassaemia screening. If the mother is a carrier then her husband should be screened. In case he is normal then no further action is needed but if he also happens to be a carrier then prenatal diagnosis should be done and if the foetus happens to be thalassaemia major then the couple has the option of termination of pregnancy. ? Thalassaemia carrier status is detected by a simple blood test (HPLC) by estimating HbA2 levels. Normal value of HbA2 = 2-3%; borderline – 3.2% to 3.9%; elevated levels for Thalassaemia carrier = 3.9% to 9%. Borderline values should be further investigated especially if the spouse happens to be a carrier. By adopting this policy that a carrier should not marry a carrier or even if married should have a prenatal diagnosis during 10 to 12 weeks of pregnancy. In India lack of awareness due to illiteracy and insufficient flow of resources contributes to the wider spread of the disease; which in turn leads to an increase in burden and its after effects. Consanguineous marriage (marriage between relatives especially close ones) seen in some communities should also screen themselves for Thal. carrier status before the marriage or immediately after marriage (before planning their family) to ensure that the birth of a Thalassaemia major child is prevented. Community level screening includes a screening of newborns done by mobile health teams at Anganwadi centers and government schools.
RECOMMENDATIONS: We have already a screening programme in place for early detection of disease and intervention of the children (RBSK); now it will not be wise or prudent if thalassemia screening programme remains in an optional category. The necessity of a universal screening programme is strongly recommendable, considering its future implications. The potential problem could practically have been solved by screening and then followed by diagnostic test. I also suggest this recommendation, by comparing the report given from other countries including Cyprus. There is a need to make the screening more readily available and to motivate high-risk groups through awareness-raising programmes.Thalassemia welfare societies can play a crucial role in awareness of the importance of knowing the Thalassemia carrier status.
J&K Thalassemia Welfare Society (JKTWS) in Jammu is doing its best in ameliorating the miseries of Thalassemia major patients as well as through awareness programmes during Blood donations camps, medical checkup camps at least twice a year and other activities. The President JKTWS Mr. Sudhir Sethi and executive members of JKTWS with the active support of department of Pediatrics GMC & SMGS Hospital Jammu are continuously working in this regard and also HLA typing of these children. Currently approximately 375 patients are registered with the society in Jammu & around 20 patients are registered in GMC Srinagar. Government of J&K (Health and Medical Education Department) is providing all the possible financial support and these patients get treatment free of cost in the hospitals.In India Thalassemia is recognized as a disability under the Rights of Persons with Disabilities (RPWD) Act, 2016,particularly those with a disability percentage of 40% or more, are eligible for disability certificate, which can provide access to social benefits like education, employment and financial support. In SMGS Hospital Jammu HPLC equipment for detecting carrier status is available and currently mostly antenatal mothers are being screened. We require bigger equipment with a regular flow of reagents so that a mass screening programme can be started and the target of “Thalassemia Free Jammu” is achieved.
(The writer is Medical Advisor JKTWS & former Professor & Head Pathology Department, GMC, Jammu)
