Thalassemia

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Thalassemia

Prevention + Treatment

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.

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

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.

Those at Risk

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

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

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

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

Causes

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

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.

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

Thalassemia Type + Symptoms

Beta Thalassemia Major

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

Beta Thalassemia Intermedia

Variable degrees of severity of symptoms of thalassemia major

Beta Thalassemia Trait

Alpha Thalassemia Major with Significant Hemoglobin Barts

Causes nonimmune hydrops fetalis, usually fatal

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

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

Hemoglobin Constant Spring

Silent or mildly symptomatic

Alpha Thalassemia Silent Carrier

Alpha Thalassemia Trait

Asymptomatic

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.

History

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

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

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