General Information About Hemoglobinopathy
Disease Details and Frequently Asked Questions
It is the production of the hemoglobin protein found inside red blood cells in a defective form that cannot meet the body's oxygen needs, due to a genetic coding error.
It is the insufficient production of hemoglobin. Because hemoglobin chains are underproduced, blood cells become weak, small, and pale, which leads to severe anemia.
The structure of hemoglobin is defective, not the amount. When oxygen levels drop, red blood cells lose their round shape and take on a 'C' or 'sickle' shape. This shape blocks blood vessels, causing severe pain crises.
It is absolutely not contagious. It is a genetic disease passed down from generation to generation by inheriting defective genes from the mother and father (in an autosomal recessive manner).
It is suspected through findings of anemia in a routine Complete Blood Count (CBC/Hemogram). The definitive diagnosis is made with a 'Hemoglobin Electrophoresis' (HPLC) test, which measures the types and proportions of hemoglobins present in the blood.
Carriers usually do not require treatment. However, major (severe) forms of the disease require regular lifelong blood transfusions every 3-4 weeks. Chelation drugs are used to rid the body of accumulating iron. The only definitive cure is a Stem Cell Transplant from a suitable donor.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
