Sickle Cell anemia  

What is Sickle Cell? People who have Sickle Cell have sickle shaped red blood cells, which causes complications because the blood cells are not able to reach certain parts of the body.

Hb S Valine replaces glutamic, in the B polypeptide chain. This alters the secondary and thirtiary 3 ry structures of B chain giving rise to Hb S molecules which clump together, causing the “sickling” of the cells.

Pathogenesis There are 4 protein subunits of Hemoglobin A Hemoglobin A Alpha Beta

A carrier for Sickle Cell Will have… An S mutation in one copy of the hemoglobin beta gene. Half of the beta subunits are replaced with Beta S. This person has the Sickle Cell trait. Hemoglobin Alpha Beta Beta S

Sickle Cell Disease: HbSS This results when both copies of the hemoglobin beta gene have an S mutation. All of this person’s beta subunits are replaced by S. Hemoglobin Alpha Beta S

inheritance

Red blood cells Going through Vessels Sickle cells tend to block the small blood vessels This gives rise to micro infarcts Abnormal RBC being destroyed from the circulation gives rise to anemia

Symptoms of Sickle Cell Anemia- pallor,breathlessness,fatigue Jaundice Delayed growth and puberty Abdominal and bone/joint pain Greater risk for infection Adolescents and adults can develop ulcers on their legs Chest pain Excessive thirst Poor eyesight, blindness Auto splenectomy-due to micro infarcts in the spleen

An x-ray of a hand swollen from dactylitis Crisis Acute chest syndrome Aplastic crisis Dactylitis – swelling of the hands and feet Painful crises: really painful episodes when blood cells are blocked from going to certain parts of the body – pain can occur anywhere, but it is usually in the chest, arms, and legs Acute Enlarged spleen – sickle cells pool in the spleen, causing abdominal pain Stroke An x-ray of a hand swollen from dactylitis

Treatment Options For Sickle Cell Anemia

There is no known cure for sickle cell anemia. Blood Transfusions Drug Treatment-hydroxyurea/penicillin prophylaxis as spleen not functioning Blood and Marrow Stem Cell Transplantation Gene Therapy These main treatment options for the painful crisis involves analgesics and oral and intravenous fluids.

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