Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal component of the hemoglobin. The disease occurs when the α-globin gene expression is reduced to less than 30% of the normal expression. [2] .

Haemoglobin electrophoresis demonstrates presence of fast-moving HbH 5-15% of the total haemoglobin. The peaks of HbH and Hb Bart’s are also identified by automatic high-performance liquid chromatography (HPLC) and capillary electrophoresis system, however, the percentage may not be accurately quantitated.

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.

Clinical phenotypes are diverse among affected individuals with non-deletional haemoglobin H (HbH) disease (--/α T α). This mainly depends on the type of mutation in α-globin genes, whether the mutation is in the HBA1 or the HBA2 gene, as well as co-inheritance of β-thalassaemia.

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.

2009年1月26日 · Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in management.

2009年1月1日 · Hemoglobin H (Hb H) disease is the most severe non-fatal form of α-thalassemia syndrome, mostly caused by molecular defects of the α-globin genes in which α-globin expression is decreased.

2003年2月1日 · In affected adults, there is an excess of β-globin chains within their erythrocytes that will form β 4 tetramer, also known as Hb H. This hereditary disorder is known as Hb H disease. 3. The most severe form of α-thalassemia is that of fetuses lacking all α-globin genes. Some succumb early in gestation.

2021年1月28日 · Analyses of mutations within the α-globin cluster that downregulate α-globin expression (α-thalassemia) provide the basis for genetic counseling and prenatal diagnosis of this common form of anemia. 1 Understanding the mechanisms by which such mutations cause α-thalassemia has established many of the principles by which mammalian genes are regul...

Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for alpha (+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha (0)-thalassemia, caused by deletion in cis of …