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By Dr Tushar Chauhan September 30, 2022

10 Common Genetic Disorders

A Mutation in a gene causes various genetic problems. Here are some of the common genetic disorders.

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Caused by a mutation in the CFTR gene. It is an autosomal recessive condition with 1 in 2, 500 to 3, 500 global prevalence.

Cystic fibrosis

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1

Mutation in F8 and F9 gene cause hemophilia A and B, respectively, it’s a type of bleeding disorder. The inheritance pattern is X-linked recessive.

Hemophilia

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2

The mutation in the HBB gene causes blood anemia -beta-thalassemia. The inheritance pattern is autosomal recessive.

Beta-thalassemia

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3

Mutation in the HBB gene causes another blood disorder, sickle cell anemia. It also follows an autosomal recessive inheritance pattern.

Sickle cell anemia

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4

DMD is caused by mutations in the DMD gene. The inheritance pattern is X-link recessive and associated with muscle problems.

DMD

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5

It is caused by CAG triplet repeat expansion in the HTT gene. The inheritance pattern is autosomal dominant and associated with neurological problems.

Huntington's disease

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6

It is caused by mutations in the BRCA1 or BRCA2 gene. It has an autosomal dominant pattern of inheritance.

Breast cancer

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7

Many forms of Albinism are reported caused by inherited mutations in TYR, TRYP1, OCA2 and SLC45A2 genes. It is occurred by lack of melanin.

Albinism

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8

Mutations in the NF1 gene cause neurofibromatosis 1. The inheritance pattern is autosomal dominant.

Neurofibromatosis 1

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9

Mutation in the NF2 gene causes neurofibromatosis 2. This form also follows an autosomal dominant inheritance pattern.

Neurofibromatosis 2

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10

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