Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes. [1]

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Hemoglobin H disease (HbH) is a form of alpha thalassemia in which moderately severe anemia develops due to reduced formation of alpha globin chains. In this condition, as in the other forms of thalassemia, there is an imbalance of globin chains needed to form hemoglobin. Normally, there are four genes to produce alpha globin chains.

Hemoglobin H disease is named for the abnormal hemoglobin H (created by the remaining beta globin) that destroys red blood cells. Alpha-thalassemia is an inherited blood disorder that reduces the body’s production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications.

Hemoglobin H disease is a serious health problem in Southeast Asia and southern China. Thousands of affected patients live in the Middle East, the Mediterranean region, and North America. Many patients require intermittent transfusions. The clinical severity is strongly influenced by the type of mutation.

Individuals with deletional HbH disease usually have mild asymptomatic anaemia that remains unsuspected in many cases until an incidental laboratory finding of anaemia prompts diagnostic workup.

HbH disease is characterised by a moderate anaemia (Hb typically ~80g/L, but can range from 60-100g/L). Haemolytic episodes are triggered by infections, especially parvovirus B19 infection and exposure to oxidant drugs. Pregnancy exacerbates the anaemia due to a dilutional effect.

Feb 1, 2003 · Hb H disease is commonly caused by a deletion removing both α-globin genes on one chromosome 16, plus a deletion removing only a single α-globin gene on the other chromosome 16 such as the (-α 3.7) or (-α 4.2) deletions. These are known as “deletional Hb H disease.” 11 15-33.

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