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Sickle Cell Anemia. By: Ven Crespo Jade Tison. Genetic Specialist . Gene or Chromosomal Chromosomal disease. Chromosome Affected The chromosome it affects is chromosome number 11. Sickle-cell disease is caused by a mutation in the Hemoglobin-Beta in chromosome 11.
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Sickle Cell Anemia By: Ven Crespo Jade Tison
Genetic Specialist • Gene or Chromosomal • Chromosomal disease. • Chromosome Affected • The chromosome it affects is chromosome number 11. • Sickle-cell disease is caused by a mutation in the Hemoglobin-Beta in chromosome 11. • Hemoglobin transports oxygen from the lungs to the veins where the hemoglobin transports it to RBCs. Mutations in chromosome 11 make hemoglobin malfunction and instead of smooth and round, it is sticky, rigid, and crescent shaped.
Genetic Specialist • Dominant or Recessive • RECESSIVE! Sickle-cell anemia is recessive. • Karyotype: • Next page: Male karyotype
Genetic Specialist • Signs and Symptoms and How it Affects the Body • abdominal pain • Bone pain • Breathlessness • Delayed growth and puberty • Fatigue • Fever • Paleness • Rapid heart rate • Chest pain • Excessive thirst • Poor eyesight/blindness • Strokes
Genetic Specialist • Prenatal Tests • Blood tests are the only option. From both parents. • Other names or Abbreviations • Sickle-cell anemia’s abbreviation is SCA (sickle-cell anemia) or SCD (sickle-cell disease)
Genetic Councelor • How? • Parents must either be affected (SS) and carrier (AS) or both affected (SS) • Survival rate • Researchers at UT Southwest Med Center at Dallas, children with sickle cell disease are living longer, dying less often from their disease and contracting fewer fatal infections than before.
Genetic Councelor • Treatable • There is currently NO CURE!!! • Tests • A way to test is the family history and a blood test. The test should detect the normal blood cells, abnormal hemoglobin (carries oxygen to blood cells) and the HbS gene. Sickle cell Anemia, Sickle cell hemoglobin C disease, Sickle beta-plus thalassemia, sickle cell beta-zero thalassemia
Genetic Councelor • Fighting Against the Disease • Biotechnological: bone marrow transplants - potential cure • Pedigree • Next page.
Parent • Lifestyle: Good nutrition: • Fluids. My child should drink as much water as possible to prevent dehydration • Proteins, fats, vitamins, minerals in adequate amount • Omega 3 fatty acids (fish, soybean oil, and dietary supplements) make RBC’s less fragile and possible less likely to sickle. [no studies prove this, yet] • Folic acid, vitamin B12 and B6 supplements. B6 may have specific anti-sickling properties. 1 mg of folic acid, 6 micrograms of B12, 6 mg of B6. Foods containing one or all of these vitamins include: meat, poultry, whole grains, dried fortified cereals, avocados, watermelon, bananas, peanuts, and oily fish.
Parent • Lifespan: • Since there are many health care services, a my child, with sickle-cell anemia, can live a normal average length life. • Grandchildren: • My child can still grow to have children of their own, but will pass down the trait to either affect their child, or make them carriers of the anemia • Their children will be affected if their spouse either has sickle cell (SS) or is a carrier of the trait (AS)
Parent • If I had more: • If I were to have more children the possibility of my next child to have sickle cell depends on the father. If we both have Sickle cell, then our next child will have Sickle-cell anemia, considering that 100% of our children will be affected. If one of us Is a carrier and one is affected, the chances of our next child being affected is 50%. If we are both carriers, the chances of our next child having sickle-cell anemia is 25%.
