Inheritance and Genetics of Sickle Cell Anemia

Sickle Cell Anemia Genetics: Book Excerpts

• Sickle Cell Disease - genetics - Sickle Cell Disease

Inheritance of Sickle Cell Anemia:

Autosomal recessive diseases are usually inherited from both parents who are both usually symptom-free genetic carriers (i.e. neither has the disease). See inheritance of autosomal recessive diseases.

Racial Patterns for Sickle Cell Anemia:

Race Profile for Sickle Cell Anemia: More common in people of African or South American descent.

Racial predominance for Sickle Cell Anemia: Africans

Racial Details for Sickle Cell Anemia: Sickle cell anemia is a major public health problem affecting a significant portion of the African-American population. (Source: excerpt from Hydroxyurea in Pediatric Patients with Sickle Cell Disease: NHLBI)

Sickle Cell Anemia: Inheritance and Genetics Details

Inheritance properties of Sickle Cell Anemia:   Disease inherited from: Usually both parents who are symptom-free genetic carriers of Sickle Cell Anemia; see inheritance of autosomal recessive diseases.

  Gender bias in inheritance: Male or females get the disease equally.

Inheritance Patterns

Inheritance odds for Sickle Cell Anemia:   Overall odds of inheritance: Usually both parents who are symptom-free genetic carriers of Sickle Cell Anemia; see inheritance of autosomal recessive diseases.

  Sibling of diseased child odds of inheriting disease: 25% usually for an autosomal recessive disease.

  Inheritance from one diseased parent odds: Usually 0% of disease, 100% of being a genetic carrier if one parent has an autosomal recessive disease (not just carrier).

  Inheritance from two diseased parents odds: 100%. Rare case where both parents are not carriers but actually have the autosomal recessive disease.

Genetic Carriers

Genetic carriers of Sickle Cell Anemia:   Inheritance from one carrier parent odds: 0% approximately.

  Inheritance from two carrier parents odds: 25% disease, 50% chance carrier, 25% neither for autosomal recessive diseases.

Inheritance Features

Inheritance features for Sickle Cell Anemia:   Inheritance pattern: Inheritance patterns for autosomal recessive diseases tend to be "horizontal".

  Sporadic form of disease possible?: Very unlikely.

Sickle Cell Anemia: Genetics Information

Genetics of Sickle Cell Anemia: SCA is an autosomal recessive disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome 11p15.4. Carrier frequency of HBB varies significantly around the world, with high rates associated with zones of high malaria incidence, since carriers are somewhat protected against malaria. About 8% of the African American population are carriers. A mutation in HBB results in the production of a structurally abnormal hemoglobin (Hb), called HbS. Hb is an oxygen carrying protein that gives red blood cells (RBC) their characteristic color. Under certain conditions, like low oxygen levels or high hemoglobin concentrations, in individuals who are homozygous for HbS, the abnormal HbS clusters together, distorting the RBCs into sickled shapes. These deformed and rigid RBCs become trapped within small blood vessels and block them, producing pain and eventually damaging organs. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Sickle Cell Anemia refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

 » Next page: Treatments for Sickle Cell Anemia

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