International Thalassemia Day: Everything you need to know about thalassemia

According to a report published by the National Health Mission in 2016 India has the largest number of children with Thalassemia major in the world ndash about 1 to 15 lakhs and almost 42 million carriers of szlig beta thalassemia trait About 10000 15000 babies with thalassemia major are born every year Even though India has the technical knowhow and means of treatment the blood disorder often goes undetected due to lack of awareness and screenings On International Thalassemia Day Dr Balkrishna Padate director and head of haematology haematooncology and bone marrow transplantation at Nanavati Max Super Speciality Hospital answers important questions to deepen our understandingWhat is thalassemia Is it geneticPadate Thalassemia is a collection of inherited blood disorders characterised by the impaired production of haemoglobin a protein in red blood cells that carries oxygen throughout the body The condition results from a genetic mutation inherited from one or both parents leading to the destruction of red blood cells and subsequent anaemiaWhat are the different types of thalassemiaPadate There are two main types of thalassemia alphathalassemia and betathalassemia Both of these types have varying degrees of severity with symptoms ranging from mild to lifethreateningAlphathalassemia occurs when one or more of the four alphaglobin genes responsible for producing alphaglobin chains are missing or mutated The severity of alphathalassemia depends on the number of affected genes ranging from silent carriers one affected gene to alphathalassemia major all four affected genes which is usually fatal before or shortly after birthBetathalassemia on the other hand results from mutations in one or both of the betaglobin genes responsible for producing betaglobin chains The severity of betathalassemia can range from thalassemia minor one affected gene to thalassemia intermedia and thalassemia major both genes affected also known as Cooleys anaemiaWhat causes thalassemiaPadate The causes of thalassemia are rooted in the genetic mutations inherited from one or both parents These mutations disrupt the normal production of haemoglobin leading to an imbalance in the alpha and betaglobin chains which in turn affects the stability and function of the red blood cells Consequently the bodys ability to deliver oxygen to tissues and organs is impairedWhat are the symptomsPadate Symptoms of thalassemia vary depending on the type and severity of the disorder Individuals with thalassemia minor may not exhibit any symptoms while those with more severe forms may experience fatigue weakness pale or yellowish skin facial bone deformities slow growth and an enlarged spleen In severe cases complications such as heart failure liver damage and infection susceptibility may ariseHow can it be diagnosedPadate Diagnosis of thalassemia typically involves blood tests including a complete blood count CBC and haemoglobin electrophoresis A CBC measures the amount of haemoglobin and the number of red blood cells present in the blood while haemoglobin electrophoresis is used to identify abnormal forms of haemoglobin Additionally DNA analysis may be conducted to identify specific genetic mutations associated with the conditionWhat is the link between anaemia and thalassemiaPadate The relationship between anaemia and thalassemia lies in the fact that the impaired production of haemoglobin in thalassemia leads to the destruction of red blood cells causing anaemia Anaemia is a condition characterised by a deficiency of red blood cells or haemoglobin resulting in reduced oxygencarrying capacity of the bloodWhat are the treatment optionsPadate Management of thalassemia also involves regular monitoring and supportive care to address complications and improve the patients quality of life This may include monitoring for iron overload screening for infections and addressing any issues related to growth and development particularly in childrenTreatment options for thalassemia depend on the type and severity of the condition Individuals with thalassemia minor may not require any treatment throughout their lives and can lead completely normal lives However thalassemia intermedia and thalassemia major patients need blood transfusions and iron chelation therapy at varying frequenciesBlood transfusions are necessary to replace the damaged red blood cells with healthy ones ensuring the body receives an adequate supply of oxygen Iron chelation therapy is used to remove excess iron accumulated in the body due to repeated transfusions as excessive iron can damage vital organs such as the heart and liver Patients may also require folic acid supplementation to support the production of red blood cellsAllogeneic bone marrow transplantation is the only cure for thalassemia major This procedure involves replacing the patients bone marrow which is responsible for producing blood cells with healthy bone marrow from a compatible donor usually a sibling or an unrelated donor with a close genetic match The healthy bone marrow allows the patients body to produce normal red blood cells and haemoglobin effectively curing the disorderHowever bone marrow transplantation carries significant risks and potential complications such as graftversushost disease GVHD in which the donors immune cells attack the recipients body and the possibility of transplant rejection Therefore this treatment option is generally reserved for patients with severe thalassemia and those who have a suitable donor availableIn addition to the above treatments research is ongoing to develop novel therapies for thalassemia including gene therapy and gene editing techniques These approaches aim to correct the underlying genetic mutations responsible for thalassemia potentially offering a longterm solution for patients with the disorderAlso Read Sweating buckets Expert guide to improve body odour in Mumbais humidity