Hematology Clinical Resource Area: Thalassemia Overview

This is an inherited hematological disease. The gene to code for hemoglobin is missing. There two types; alpha and beta. This relates to the missing protein chain in the hemoglobin. The disease can be mild or severe the degree is determined by the disorganization of the protein chain by missing protein(s).

Alpha Thalessemia is a mild form sometimes known as a silent carrier. Where as Beta Thalessemia can be 1 of 3 forms; minor, intermediate or major. Major Beta Thalessemia is also known as Cooley's anemia.

Treatment for this disease depends on the disease severity. Some patients may require no treatment but should be provided genetic counseling. Where as those with moderate to severe disease will require treatment.

Treatment includes transfusion support, chelating therapy and din some cases bone marrow transplant. Transfusion re provide don schedule to maintain normal hemoglobin. Chelation therapy by infusion or oral form is necessary in transfusion dependent patients. Bone marrow transplant is risky and expensive but may offer disease cure form children.

Diagnosis: Thalessemia is diagnosed by blood tests. A complete blood count (CBC) including hemoglobin is necessary at diagnosis. Family genetic testing and counseling is necessary. Prenatal testing is available to determine if unborn baby has disorder and how severe.

Disease Overview: Many possible combinations of genes and genetic misprints cause Thalessemia. Four genes are necessary for alpha globlin in the hemoglobin. Those with all four gene alterations often do not survive to birth and will die within hours if delivery occurs. Patients with three of more gene disorders will have moderate to sever disease state. Patients with Beta Thalessemia can be in a state of disease carrier up to severely affected. Those with severe disease states can expect a lifespan of 20-40 years. The disease is prevalent in those of Mediterranean origin or ancestry. It is also common to those of Asian and African descent.

Research is investigating therapy options. These include work in the area of stem cell therapies. Also research is evaluating the use of gene therapy in Thalessemia.

National Heart Lung and Blood Institute; Diseases and Conditions Index
DCI Home: Blood Diseases: Thalassemia