Thalassemia also referred to as Cooley’s anemia, Mediterranean anemia, Hemoglobin H disease, or hydrops fetalis: Thalassemia is where the body doesn’t make enough hemoglobin, the part of the blood that helps carry oxygen throughout the body. This causes severe anemia and for parts of the body to not be able to function properly. Symptoms will vary depending on the type and severity of thalassemia but may include: fatigue, weakness, paleness, jaundice, abdominal swelling, dark urine and slow growth.
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 several types of thalassemia.
Alpha Thalassemia: Alpha globin is made by four genes and one or more can be mutated or missing.
- Silent Carrier: When only one gene is abnormal, there are no signs or symptoms.
- Minor or Trait: When two genes are abnormal, this will cause minor symptoms such as slight anemia.
- Hemoglobin H disease: When three genes are abnormal, children will have persistent anemia.
- Major: Four abnormal genes are typically fatal in utero.
- Beta Thalassemia: Beta globin is made up of three genes, and one or more can be mutated.
- Minor or Trait: When only one gene is abnormal, there are typically minor symptoms such as mild anemia which requires no treatment.
- Intermedia: When two genes are mutated, but not severely, a child will typically have anemia that will sometimes need to be treated with blood transfusions.
- Major (Cooley’s anemia): When two genes are severely mutated, a child will have chronic, severe anemia which requires regular blood transfusions. This can also be life-threatening.
Causes: Thalassemia is a genetically inherited disorder.
Possible complications: With frequent blood transfusions, a person with thalassemia can experience iron overload. This is typically treated with chelation therapy, where the iron is stripped from the blood. In some countries, this treatment is not available. Children with thalassemia are at greater risk for infection, enlargement of the spleen, bone deformities, delayed growth and heart problems.
Treatment: Minor cases of thalassemia typically require little to no intervention. Children with more significant types of thalassemia will require regular blood transfusions. Some children will need to have their spleen removed. A stem cell or bone marrow treatment may cure thalassemia, however this procedures has significant risks, including death and it is not recommended for adopted children.
Prognosis: In many cases, with treatment, children with thalassemia can live a healthy life. However, if a child lives in a country where chelation therapy is not available, the condition will be fatal.
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Links for this Special Need:
https://www.facebook.com/groups/340980609266284/ *Parents can join this group once they have submitted a letter of intent to adopt a child with thalassemia.
Stories or Blogs from Families who have Parented a Child with Thalasemia: