Hemoglobinopathies (e.g. Sickle Cell Anemia, Thalassemia)

Hemoglobinopathies (e.g. sickle cell anemia, thalassemia)

If you have just found out through genetic testing that you and/or your partner are a carrier of a hemoglobinopathy or that your baby may be at risk of having a hemoglobinopathy and you are  looking for more information, the Genetic Support Foundation is a good starting point.

There are other important resources out there, including your doctor and genetic counselor. We have also compiled a list of resources below that can provide you with additional information and support.

After reviewing the information below, if you have a question that you are having difficulty finding an answer for, please feel free to contact us

Overview of Important Information about Hemoglobinopathies

Hemoglobin diseases (called hemoglobinopathies) are a group of disorders characterized by abnormal or decreased production of hemoglobin, the molecule that carries oxygen throughout the body. The severity of these diseases ranges from mild to severe depending on the type of hemoglobin defect. The most common hemoglobinopathies are alpha-thalassemia, beta-thalassemia and sickle cell anemia.  The American Congress of Obstetricians and Gynecologists (ACOG) recommends that screening for hemoglobinopathies be offered to couples where at least 1 of the partners has some ethnic background including African American, Mediterranean or Southeast Asian as individuals from these ethnic backgrounds are at increased risk.   Hemoglobinopathies are autosomal recessive disorders in which both parents must be carriers of the condition in order to have a child with it.  However, there can be different combinations, for example, one parent could be a carrier of sickle cell anemia and one could be a carrier of beta thalassemia and their children would be at risk for a condition called sickle beta thalassemia.

General information on Hemoglobinopathies

General information on hemoglobinopathies from Baby’s First Test 

Information on Sickle Cell Anemia

Information on sickle cell anemia from KidsHealth

Information on sickle cell anemia from the NIH’s National Heart, Lung and Blood Institute

Information on Alpha Thalassemia

Information on Alpha Thalassemia from KidsHealth



Information on Beta Thalassemia

Information on Beta Thalassemia from KidsHealth

Information on Sickle Beta Thalassemia

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