Which of the following has Autosomal Recessive inheritance?: (A) Hereditary spherocytosis, (B) Sickle cell anaemia, (C) Osteogenesis imperfecta, (D) VWD
Answer is B. Sickle cell disease is a common hereditary hemoglobinopathy caused by point mutation resulting in replacement of Glutamic acid by Valine at 6th position of b-globin chain. Autosomal Recessive inheritance Autosomal Dominant (A Very DOMINANT Hereditary Family) Autosomal Recessive (ABCDEFGH'S) Achondroplasia/ADPKD Von Hippel Lindau disease Dystrophia myotonica Osteogenesis imperfecta Marfan Syndrome Intermittent porphyria NF 1(Von Recklinghausen disease) Achondroplasia NF 2 Tuberous Sclerosis Huntington Disease Familial hypercholesterolemia Albinism, Ataxia Telangiectasia, Alkaptonuria Beta thalassemia Cystic Fibrosis Dubin Johnson Emphysema (alpha 1 antitrypsin deficiency) Friedreich Ataxia Galactosemia Hemochromatosis Sickle cell anemia