Sickle Cell Anemia
Sickle Cell Anemia, also known as Sickle Cell Disease (SCD), is an inherited blood disorder characterized by abnormal hemoglobin. This genetic blood disorder causes red blood cells to assume a crescent or sickle shape instead of the usual round shape, leading to various complications.
Impact of Gene Variants
Sickle Cell Anemia is caused by a specific genetic mutation in the HBB gene which which encodes for a sub-unit of hemoglobin, thereby affecting hemoglobin.
Individuals with two copies of the mutated gene (homozygous) have severe SCD, while carriers (heterozygous) exhibit milder symptoms.
Ways to Recognize Problems
- Newborn Screening: Early detection through newborn screening programs helps identify affected infants.
- Hemoglobin Electrophoresis: This test distinguishes between normal hemoglobin (HbA) and sickle hemoglobin (HbS).
- Clinical Symptoms: Monitoring for symptoms like pain, fatigue, jaundice, and organ complications.
Ways to Improve
Getting Genetic testing to help identify the presence of the mutation in HBB gene and lifestyle changes and supplementation for those who carry the mutation.
- Hydration: Staying well-hydrated helps prevent sickling of red blood cells.
- Pain Management: Effective pain relief during crises is crucial.
- Folic Acid Supplementation: Supports red blood cell production.
- Blood Transfusions: Regular transfusions can reduce complications.
- Hydroxyurea: Stimulates fetal hemoglobin production.
Did you know
Affects millions worldwide, particularly those of African, Mediterranean, or Indian descent.
