Haemoglobin D Disease is a genetic disorder caused by a mutation in the HBB gene which is responsible for producing the beta-globin protein. This mutation results in an abnormal form of haemoglobin, known as haemoglobin D, which is unable to transport oxygen efficiently.
Haemoglobin D Disease is typically diagnosed through a combination of physical examination, family history, haemoglobin electrophoresis and genetic testing. The characteristic red blood cells on a peripheral blood smear can also be indicative of the disorder.
Differential diagnosis includes other haemoglobinopathies such as Thalassaemia, Sickle Cell Disease and Haemoglobin C Disease.
Treatment of Haemoglobin D Disease typically involves supportive care such as regular blood transfusions, medications to prevent and/or treat infections, and folic acid supplements. In some cases, bone marrow transplantation may also be recommended.
The prognosis for Haemoglobin D Disease is generally good with regular blood transfusions and supportive care. However, the risk of complications such as stroke and organ damage is increased with this disorder.