Sickle Cell Disease - knowledge is power!
Thanks to all who participated in our poll a few weeks ago.
Question was: Daddy has the Sickle Cell trait/disease. Mommy does not have the Sickle Cell trait/disease. Is it possible for them to have a child who has Sickle Cell disease?
The correct answer is YES!
A child can inherit Sickle Cell DISEASE even when both parents do not have hemoglobin S. If one parent has hemoglobin S, there are other interactions that could lead to Sickle Cell DISEASE. Here are some of the possible ways that a child can inherit the major types of Sickle Cell DISEASE.
1.) Parent 1 has hemoglobin S. Parent 2 has hemoglobin S. The child could inherit a type of Sickle Cell DISEASE referred to as hemoglobin SS.
2.) Parent 1 has hemoglobin S. Parent 2 does not have hemoglobin S. However, Parent 2 has Thalassemia. The child could inherit a type of Sickle Cell DISEASE referred to as Sickle Beta Zero Thalassemia. The child could also inherit another type of Sickle Cell DISEASE referred to as Sickle Beta Plus Thalassemia.
3.) Parent 1 has hemoglobin S. Parent 2 does not have hemoglobin S. However, Parent 2 has hemoglobin C. The child could inherit a type of Sickle Cell DISEASE referred to as hemoglobin SC.
4.) Parent 1 has hemoglobin S. Parent 2 does not have hemoglobin S. Parent 2 does not have hemoglobin C. However, Parent 2 has another type of abnormal hemoglobin (e.g D or E or O). The child could inherit a type of Sickle Cell DISEASE referred to as hemoglobin SD or SE or SO etc....
As you can see from the above, contrary to common knowledge that Sickle Cell DISEASE generally means that the person has hemoglobin SS, there are actually multiple types of Sickle Cell DISEASE.
Hemoglobin SS is the most common form of the disease.
Hemoglobin SS and Sickle Beta Zero Thalassemia are the most severe forms of the disease.
Hemoglobin SC is a moderate form of the disease.
Sickle Beta Plus Thalassemia is generally considered to be the mildest form of the disease.
Hemoglobin SD or SE or SO are very rare and the severity of the disease in those rare cases, vary.
Important to know: Sickle Cell screening is critical. Unfortunately, the “Sickle Cell test” only screens for hemoglobin S. This means that you could do the screen for Sickle Cell, have negative results (absence of hemoglobin S) but still have a child with Sickle Cell disease from one of the other variations mentioned above if your partner has hemoglobin S. To be completely sure, you should request i) a Complete Blood Count (CBC) as abnormal results could potentially indicate Thalassemia and ii.) DNA testing or hemoglobin electrophoresis to find out the type of hemoglobin present in your blood.
Do you/your partner have hemoglobin S? Do you/your partner have hemoglobin C? Do you/your partner have Thalassemia? Know your genetic makeup. Knowledge is power!
Please note, the focus of this writing was solely on Sickle Cell DISEASE, not the Sickle Cell trait.