A hereditary disorder of which there are several forms caused by an anomalies in the protein component of the haemoglobin, leading to severe anaemia. It is found especially in people from Mediterranean countries, the Middle East and East Asia.
Also known as Cooley’s anaemia, this is a condition characterized by severe anaemia, due to an abnormal form of haemoglobin in the blood. It is an inherited disease which is widely spread across the Mediterranean through the Middle East and into the Far East. It has a particularly high incidence in Greece and in Italy. The abnormal haemoglobin preyents the affected red cells from functioning properly. This results in anaemia. The spleen enlarges and abnormalities occur in the bone marrow. If someone inherits the disease from both parents, he or she is seriously affected but, if only one parent had the abnormal gene, the person could well be free of symptoms. The severe form of the disorder is called thalassaemia major and affected individuals need repeated blood transfusions, possibly as frequently as every 6 weeks, as well as treatment to remove excessive iron from their body resulting from the transfusions. The disease can be diagnosed by prenatal investigation.
Thalassemia is a collection of hereditary blood disorders that stem from a deficiency in generating the oxygen-transporting pigment hemoglobin. Ordinarily, this pigment is manufactured within the bone marrow and integrated into red blood cells. However, a significant portion of these red blood cells turn delicate and undergo hemolysis, or disintegration, resulting in anemia. Thalassemia is particularly widespread in regions including the Mediterranean, the Middle East, and Southeast Asia, as well as among families originating from these areas.
Typical adult hemoglobin consists of two pairs of protein chains known as globins, specifically alpha and beta. In thalassemia, a recessive faulty gene leads to diminished production of one of these chains. Often, this affects the production of beta chains, leading to what’s known as beta-thalassemia. When caused by a single defective gene, it results in beta-thalassemia minor (thalassemia trait), which is never severe. When both genes are defective, beta-thalassemia major (Cooley’s anemia) occurs. A less common disorder, alpha-thalassemia, varies in intensity, yet alpha-thalassemia major usually results in fetal demise.
Signs of beta-thalassemia major become evident between three to six months after birth and encompass breathlessness, jaundice, and an enlarged spleen. If left untreated, the bone marrow cavities enlarge, resulting in distinctive expansion of the skull and facial bones. This progression halts normal bodily growth, and there’s a high likelihood of death occurring during early childhood.
Diagnosing beta-thalassemia major involves analyzing blood samples under a microscope and conducting additional blood tests. Treatment involves blood transfusions and potentially splenectomy (spleen removal). However, repeated blood transfusions can result in excessive iron accumulation within the body. Chelating agents are administered orally or through infusion to aid in the elimination of excess iron. A bone marrow transplant represents a curative option.
Genetic counseling is recommended for parents or other immediate relatives of a child with thalassemia, as well as for individuals with thalassemia trait.