Sickle cell anemia is:
Ans. (a) Autosomal recessiveRef: Robbin's pathology 9th ed. /141AUTOSOMAL DOMINANT* One mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder.* Autosomal dominant disorders tend to occur in every generation of an affected family.* Associated diseases can be remembered as "DOMINANT"D= Dystrophy Myotonic.O- Ostogenesis Imperfecta.M- Marfan's syndrome.I- Intermittent Porphyria.N- Noonans Syndrome.A- Adult Polycystic Kidney, Achondroplasia.N- Neurofibromatosis.T- Tuberous sclerosis.AUTOSOMAL RECESSIVE* Two mutated copies of the gene are present in each cell when a person has an autosomal recessive disorder.* Autosomal recessive disorders are typically not seen in every generation of an affected family.* Diseases can be remembered as "ABCDEFGH SPW":A- Albinism, Alpha 1 Antitrypsin DeficiencyB-Beta ThalassemiaC-Cystic Fibrosis, CGD, CAHD-Deafness(SNHL), Dubin JohnsonE-Enzyme Deficiencies(Glycogen Storage And Lysosomal Storage)F-Friedrichs Ataxia, Fanconi AnemiaG- GalactosemiaH-Hemochromatosis, Hurler syndromeS-Sickle Cell DiseaseP- PhenylketonuriaW-Wilsons diseaseX-LINKED DOMINANT* X-linked dominant disorders are caused by mutations in genes on the X chromosome.* Females are more frequently affected than males, and the chance of passing on an X-linked dominant disorder differs between men and women.* Families with an X-linked dominant disorder often have both affected males and affected females in each generation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male- to-male transmission).* Ex: hypophosphatemic rickets, also called vitamin D- resistant rickets.X-LINKED RECESSIVE* X-linked recessive disorders are also caused by mutations in genes on the X chromosome.* Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women.* Families with an X-linked recessive disorder often have affected males, but rarely affected females, in each generation.* A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to- male transmission).* Diseases under this are:# G6PD# Duchenne muscular dystrophy# Hemophilia A
Autosomal recessive
Autosomal dominant
X-linked recessive
X-linked dominant
Mendelian Disorders: Single-Gene Defects