Timely diagnosis of Thalassemia will help protect you and your baby
INVC NEWS Pune, When Ankita was 12 weeks pregnant and received her blood test reports which revealed low hemoglobin and tendency towards anemia, she was devastated. Furthermore, she was diagnosed as a carrier of alpha thalassemia. Her husband has also been asked to get tested for the same. Ankita is worried about what this means for her unborn child as well as her 4 year old daughter who could be a possible carrier of thalassemia. On the occasion of World Thalassemia Day, doctors at Columbia Asia Hospital, Pune, say early diagnosis will be better for pregnant women and their families, giving them time to make decisions about treatment. Thalassemia refers to a spectrum of genetic blood disorders characterized by the reduction in the synthesis or absence of hemoglobin in the body. People with thalassemia usually produce lesser amounts of healthy hemoglobin, and their bone marrow could even stop producing healthy red blood cells after a sometime. Regular blood transfusions are an important form of treatment available to patients with thalassemia.Most thalassemia major patients require transfusions every 2-4 weeks, depending on their consumption of the infused cells. Regular blood transfusions provide patients with the red blood cells needed to survive. However, once these red blood cells are broken down, the body is left with an excess of iron. Dr. S. Kannan Consultant Hematologist , Columbia Asia Hospital, Pune, says, “The iron overload in thalassemic women can affect the development of their sexual organs, which has adverse effects on theirreproductive capabilities. Women with thalassemia may experience delayed puberty and some do not reach sexual maturitydue to the excessive iron deposition in their sexual glands, which leads to deficiency of hormones extraction which is necessary for sexual maturation in thalassemic patients.” The disease is passed on to children by parents who carry the mutated thalassemia gene. In most cases, thalassaemia startsto manifestduring early childhood, and patients require frequent life-long blood transfusions to survive. A child who inherits one mutated gene is a carrier, of thalassemia.( Please check the credibility of this statementIf you or your partner is a thalassaemia carrier, your baby has one in two chances of inheriting the gene defect and being a carrier like one of his parents. But if both you and your partner are thalassaemia carriers, your babymay haveone in four chances that he/she will be neither a carrier, nor have the disease or have severe thalassaemia.) “The presence of sexual dysfunction and infertility in female thalassemic patients can be overcome with proper management, and regularly blood transfusionso that women can conceive spontaneously or by inducing ovulation. It is necessary that all pregnant thalassemia patients be followed up very closely.Apart from the routine pregnancy follow-up, thalassemic pregnant women need additional medical care. Hemoglobin levels should be carefully monitored and ferritin levels should also be measured and observed to avoid iron overload. Regular and periodic evaluation of cardiac function by a cardiologist should be done in all pregnant thalassemic women to prevent fluid overload”, adds Dr. S. Kannan Consultant Hematologist Columbaia Asia Pune Doctors at Columbia Asia Hospitals, Pune say that this disease poses a major physical and emotional health burden to many infants and their family members, and just like other blood-disorders, there is still a certain level of stigma attached to it. Collective action can pave the way for a brighter future with regard to treatment and management in thalassemic people. And, parents must remember that if they are diagnosed with the disease, it is not the end of the world, and there is hope left for them and their children.