Although there are several different types of thalassemia we will be focusing here today on the three major types. The latter include thalassemia alpha, thalassemia beta and thalassemia minor. Of these three, beta thalassemia is also known as thalassemia major and it includes all the others subtypes and intermedia. Hydrops Fetalis and hemoglobin H and other subtypes are included in alpha thalassemia. Every type and subtypes has their own set of symptoms.
Beta thalassemia is sometimes commonly known as thalassemia major but actually thalassemia is one of the severe most subtype of the former. Beta thalassemia occurs due to the inability of beta globin production of the body. Beta globin production results from the inheritance of two separate genes from each parent. Thalassemia major also known as Cooley’s anemia and thalassemia intermedia are two of the most severe subtypes of beta thalassemia. Symptoms of this are generally found before the child reaches 2 years of age. Once the disease is passed on to the offspring the consequences are life threatening. General symptoms of major thalassemia are a persistently poor appetite, paleness of the body, frequent infections due to the weak immune system of the body, fussiness, failure to thrive, organs get enlarged and in most cases the patient suffers from jaundice. Paleness in patients is frequent with yellowish stains on the skin or a whitish cast on the eyes.
Thalassemia treatment in India is quite cost-effective than it is in other western countries. It arranges for a patient’s immediate and regular blood transfusions so that the patient can be provided an intensive care in terms of extreme cases. However, thalassemia intermedia does not require the regular blood transfusion. It is a less severe case of the beta-thalassemia form. Alterations in both of the beta globin genes might result in thalassemia intermedia. Alpha globin sometimes cannot be produced by the body and hence alpha thalassemia might result. Hemoglobin H develops when three ultra globin genes goes missing. Other bone issues might also accompany with hemoglobin H and in extreme cases the forehead, jaws and cheeks of the patient might over grow. Also jaundice, malnourishment and enlarged spleen is common.
Symptoms of thalassemia not only varies from one subtype to the other but also from patient to patient. Facial bone deformities are extremely common, with an yellow or pale skin. Besides this, the patient might have dark urine along with excessive tired feeling and fatigue. Also he might encounter a delayed growth and development in his body. A patient with thalassemia is not bound to show symptoms from the early onset because symptoms gradually begin to show up in later childhood or adolescence. This disease is basically inherited, owing to a genetic defect in any of the parent.
Any abnormality on mutation in the gene producing hemoglobin can be passed on from the pregnant mother to the fetus. In case if one of the parent is a carrier of thalassemia the baby develops thalassemia minor. But if both the parents are the careers of thalassemia, then there is a severe possibility of the fetus being born with thalassemia major.