Thalassemia

Support Foundation

History

Thalassemia was first described in 1925 by a physician who was studying severe anemia on Italian children.

In 1946 the cause to thalassemia was found to be an abnormal hemoglobin structure.

Current Research Being Done

Scientists are working on a gene therapy that may offer a cure for thalassemia. Such a treatment involves inserting a beta globin gene into the patients stem cells.

Thalassemia Type + Symptoms

Alpha Thalassemia Trait

Asymptomatic

Alpha Thalassemia Silent Carrier

Asymptomatic

Hemoglobin Constant Spring

Silent or mildly symptomatic

Alpha Thalassemia Intermedia with Significant Hemoglobin H (Hemoglobin H Disease)

Moderate to severe hemolytic anemia, modest degree of ineffective erythropoiesis, splenomegaly, variable bone changes

Alpha Thalassemia Major with Significant Hemoglobin Barts

Causes nonimmune hydrops fetalis, usually fatal

Beta Thalassemia Trait

Asymptomatic

Beta Thalassemia Intermedia

Variable degrees of severity of symptoms of thalassemia major

Beta Thalassemia Major

Abdominal swelling, growth retardation, irritability, jaundice, pallor, skeletal abnormalities, splenomegaly; requires lifelong blood transfusions

Causes

Thalassemia is caused by a mutation in the DNA of cells that make hemoglobin.

The severity of alpha thalassemia depends on the number of gene mutations you inherit from your parents. The more mutated genes, the more severe your thalassemia is.

The severity of beta thalassemia depends on which part of the hemoglobin molecule is effected

Those at Risk

Beta thalassemia mostly occurs in those who are Mediterranean (Greek, Italian and Middle Eastern), Asian and African descent.

Thalassemia affects both men and women it occur in approximately 4.4 of every 10 000 live births.

Alpha thalassemia mostly occurs in those who are Southeast Asian, Indian, Chinese, and Filipino descent.

Thalassemia is an inherited gene mutation that usually occurs when passed down from either one or both parents.

Prevention + Treatment

Unfortunately there is no way to prevent thalassemia, due to it being a genetic disordered that is inherited and not induced. Although you can get prenatal tests done to see if you have these blood disorders.

Treatments for thalassemia include: transfusions of the red blood cells, folic acid, deferoxamine, deferasirox, blood and marrow stem cell transplant.

Better treatments now allow people who have moderate and severe thalassemia to live longer. As a result, these people must cope with complications that occur over time.