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HOW DO YOU INHERIT SICKLE CELL ANEMIA?

Let’s put to rest the myth that sickle cell anemia is a disease that only occurs in people of African American heritage!

 

Sickle cell anemia is an inherited genetic blood disorder and it only occurs in individuals whose parents genetic makeup consists of the hemoglobin S or another version of abnormal hemoglobin that is characteristic of sickle cell disease.

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Every person has two copies of a hemoglobin gene in every cell throughout their body, except for your reproductive cells (Sperm and Egg) these sex cells only carry one copy of each parents gene, and together create the new code for gene production for future generations.

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Sickle Cell Anemia is characterized as being found in individuals with ancestry from South or Central America, Africa, Caribbean Islands, Mediterranean countries, Saudi Arabia and South East Asia, namely India.

 

It takes 2 copies of the identified abnormal hemoglobin genes to cause sickle cell anemia disease in an individual and even then there is only a 25% chance that the disease will be inherited.

HOW IS SICKLE CELL DISEASE DIAGNOSED?

Since the mid 1990's screening new born children for a host of potential genetic conditions has been a requirement. One of those conditions screened for is Sickle Cell Anemia.

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This test is referred to as a new born screening, this screening tests for severe genetic conditions and diseases that may be present in newborns in order to re-stack population statistics, as well as determine if young children will need further care in future.

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These test are usually conducted within the hospital in your Childs first 24-48 hours of life outside the womb, but in some cases the test can be performed by your primary care provider after leaving the hospital.

 

The health care provider will draw blood usually from a heel prick and depending on the state you live in you will receive the news from the department of health, your primary care doctor, or a hematologist/oncologist who has received your referral.

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The first trip to a hematologist usually occurs by your Childs second month, they will undergo a second blood test to confirm the results of the new born test, this test is called hemoglobin electrophoresis.

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Your hematologist may suggest follow up blood work for you and your partner, this blood work will determine the specific type of sickle cell anemia your child may have inherited.

TYPES OF SICKLE CELL ANEMIA

  • HbAS ; Sickle Cell Trait: Sickle Cell Trait is characterized as the presence of abnormal Hemoglobin S and normal Hemoglobin A. Sickle Cell trait is not a disease, but in some cases sickle cell trait carriers can still suffer from some symptoms and imbalances associated with sickle cell anemia.

 

  • HbSS: Individuals with this form of sickle cell disease is caused by the inheritance of two sickle cell genes (SS) provided from each parent. This tends to be the most common form of sickle cell disease, and unfortunately has been documented to have a more severe form of complications, however this does vary by individual.

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  • HbS beta thalassemia: Individuals with this form of sickle cell disease inherit one (S) sickled gene and another gene for beta thalassemia, another type of anemia. Varying to 0 (zero) and + (plus). Hbs 0-beta thalassemia still have no presence of the adult hemoglobin or normal hemoglobin A. It is characterized to have more severe symptoms potentially mirroring HbSS. Individuals with HbS beta +-thalassemia in reverse are characterized to have milder symptoms of sickle cell disease.

 

  • HbSC: Individuals with this form of sickle cell disease is caused by the inheritance of one sickle cell gene (S) and one abnormal hemoglobin gene ( C). It is usually characterized by having milder symptoms and less complications from sickle cell disease.

 

  • HbSD, HbSE, HbSO, HbSO Arab- Individuals with this form of sickle cell disease is caused by the inheritance of one sickle cell gene (S) and one abnormal hemoglobin gene. The symptoms and complications across these forms of sickle cell disease can vary from mild to having severe complications as seen in HbSS, sickle cell disease.

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