Genetic and Clinical Features of Hemoglobin H Disease in Chinese Patients

Abstract

Chinese patients in Hong Kong with the nondeletional type of hemoglobin H disease have more severe disease than those with the deletional type of the disease. Iron overload is a major cause of disability in both forms of the disease.

Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases

“…There have been several mutational surveys of Hb H disease patients in various regions of the Mediterranean basin [7,[9][10][11][12][13] and southeast Asia [16][17][18]. As is the case for ␤-thalassemia, each population group is characterized by a relatively small number of ␣-thalassemia determinants and Hb H disease genotypes.…”

Alpha Thalassemia Disorders

“…When complications arise, of course the outcome depends on the awareness and availability of health care systems. Certainly some complications suffered by patients with HbH disease are life threatening in the absence of adequate medical care (21,60,61). A long term problem for all patients with HbH disease is the unwanted accumulation of iron which may be more of a problem for those with severe HbH disease with nondeletional alpha-thalassaemia (62,63).…”

Detection of increased middle cerebral artery peak systolic velocity in fetuses affected by hemoglobin H Quong Sze disease

“…Since most people affected by Hb H disease have only moderate anemia, invasive prenatal diagnosis and/or termination of pregnancy is usually not needed 9 , but a noninvasive prenatal prediction is desirable. The findings of a high fetal MCA-PSV and cardiomegaly/placentomegaly in our two cases of Hb H Quong Sze disease are not unexpected because these abnormal signs were reported in fetuses affected by homozygous α-thalassemia-1 8,10,11 .…”

“…The findings of a high fetal MCA-PSV and cardiomegaly/placentomegaly in our two cases of Hb H Quong Sze disease are not unexpected because these abnormal signs were reported in fetuses affected by homozygous α-thalassemia-1 8,10,11 . An increase in the MCA-PSV is associated with fetal anemia due to maternal red cell alloimmunization 9 . However, whether measuring the fetal MCA-PSV is useful in predicting mild anemia in Hb H disease requires further investigation.…”