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26 Jun 2018
1. (a) Describe the disorder of sickle cell disease. Include a description of the molecular defect, inheritance, clinical features, diagnosis and treatment.
(b) Name another beta-Âglobin mutation, and explain why this other mutation results in very different clinical features to sickle cell disease.
(c)A couple have three children. The first child has alpha-Âthalassemia trait, the second has Hb H disease whilst the third is unaffected. The mother, from Vietnam, has alpha thalassemia trait whilst the father has no symptoms. Outline the probable genotypes and phenotypes of the couple and their children, and predict whether this couple is at risk of conceiving a child with a severe form of alpha-Âthalassemia that is fatal in utero.
1. (a) Describe the disorder of sickle cell disease. Include a description of the molecular defect, inheritance, clinical features, diagnosis and treatment.
(b) Name another beta-Âglobin mutation, and explain why this other mutation results in very different clinical features to sickle cell disease.
(c)A couple have three children. The first child has alpha-Âthalassemia trait, the second has Hb H disease whilst the third is unaffected. The mother, from Vietnam, has alpha thalassemia trait whilst the father has no symptoms. Outline the probable genotypes and phenotypes of the couple and their children, and predict whether this couple is at risk of conceiving a child with a severe form of alpha-Âthalassemia that is fatal in utero.
Jamar FerryLv2
26 Jun 2018
