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.

2009年1月1日 · In this chapter we will review the molecular defects leading to Hb H disease, and its clinical manifestations, diagnosis, and management. We will also discuss possible modifiers at both the genetic and environmental levels that may modify its clinical severity.

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.

The loss of function of three alpha-globin genes is called hemoglobin H disease. People with hemoglobin H disease have a variable phenotype that can range from mild symptoms to those similar to thalassemia major.

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.

Hemoglobin H and hemoglobin Barts are fast-moving hemoglobins that may appear on electrophoresis. However, they are unstable and often go undetected. Patients with hemoglobin H disease have greater than 20 percent hemoglobin Barts at birth.

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. In the majority of cases, Hb H disease results from double heterozygosity for alpha(0)-thalassemia due to deletions that remove both linked alpha-glob …