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Autosomal recessive
Autosomal recessive genetic disorders
| Question | Answer |
|---|---|
| Fanconi anemia | ~Autosomal recessive ~prevents bone marrow from making enough new blood cells ~occurs in all racial and ethnic groups and affects men and women ~Physical abnormality ~Average lifespan-between 20 and 30 years; Blood and marrow stem cell transplant |
| Galactosemia | ~Autosomal recessive ~caused by Mutations in the GALE, GALK1 and GALT genes ~occurs in 1 in 30,000 to 60,000 newborns among Caucasians ~brian, liver, and eye damage ~People who get an early diagnosis and strictly avoid milk products can live a normal |
| Phenylketonuria (PKU) | ~Autosomal recessive ~causes the amino acid phenylalanine to build up in the blood ~occurs in 1 out of every 13,500-19,000 births higher incidence in white and Native American ~severe and irreversible mental retardation ~diet w/ reduced amounts of pro |
| Sickle cell anemia | ~Autosomal recessive ~body makes sickle-shaped red blood cells ~occurs in about 1 in 12 African Americans. ~fatigue, Shortness of breath, Dizziness, Headache, Coldness, Pale skin, Chest pain ~no widely available cure |
Created by:
miki728
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