|Other encyclopedia topics:||A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9|
|Contents of this page:|
Alternative Names Return to topMediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha thalassemia
Definition Return to top
Thalassemia is an blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells and anemia.
Causes Return to top
Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of these proteins.
There are two main types of thalassemia:
Alpha thalassemias occur most commonly in persons from southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur in persons of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
You must inherit the defective gene from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and do not have symptoms.
Beta thalassemia major is also called Cooley's anemia.
Risk factors for thalassemia include:
Symptoms Return to top
The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth of the late stages of pregnancy).
Children born with thalessemia major (Cooley's anemia)are normal at birth, but develop severe anemia during the first year of life.
Other symptoms can include:
Persons with the minors form of alpha and beta thalassemia have small red blood cells (that can be seen under a microscope), but no symptoms.
Exams and Tests Return to top
A physical exam may reveal a swollen (enlarged) spleen.
A blood sample will be taken and sent to a laboratory for examination.
A test called mutational analysis can help detect alpha thalassemia that cannot be detected with hemoglobin electrophoresis.
Treatment Return to top
Treatment for thalassemia major often involves regular blood transfusions and folate supplements.
If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.
Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove iron from the body.
Bone marrow transplant may help treat the disease in some patients, especially children.
Outlook (Prognosis) Return to top
Severe thalassemia can cause early death due to heart failure a, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia usually do not result in a shorter life span.
Possible Complications Return to top
Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.
Blood transfusions can help control some symptoms, but may result in too much iron which can damage the heart, liver, and endocrine system.
When to Contact a Medical Professional Return to top
Call for an appointment with your health care provider if:
Prevention Return to top
Genetic counseling and prenatal screening may be available to those with a family history of this condition who are planning to have children.
References Return to top
Forget BG, Cohen AR. Thalassemia syndromes. In: Hoffman R, Benz EJ, Shattil SS, et al, eds. Hematology: Basic Principles and Practice. 4th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2005:chap 35.
Debaun MR, Vichinsky E. Hemoglobinopathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap.462.Update Date: 1/12/2009 Updated by: Todd Gersten, M.D., Hematology/Oncology, Palm Beach Cancer Institute,West Palm Beach, FL. Review provided by VeriMed Healthcare Network. Also reviewed by Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.