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Please explain me albinism thalassemia cystic fibrosis in detail

Please explain me albinism thalassemia cystic fibrosis in detail

Grade:12th Pass

1 Answers

Simran Vinaik
askIITians Faculty 1231 Points
4 years ago
Albinism happens when certain cells in our bodies can't make the pigmentmelanin. This is due to Autosomal Recessive gene mutation, meaning mutation should be in both the copies of gene coding for melanin protein.

The thalassemias are a group of recessively inherited conditions in which hemoglobin is defected.
Hemoglobin is made of heme, alpha globins, and beta globins.
Alpha thalassemia occurs when a mutation in the gene that codes for alpha globin results in reduced or absent production of alpha globins.
Beta thalassemia occurs with a corresponding change in the beta globin gene.

Cystic fibrosis is again an autosomal recessive disease. The disease occurs when there is a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.The mutation leads to defect inthe secretory glands, causing an excessive production of mucus and salty sweat. While in healthy people mucus is a watery and slippery substance, in CF patients, it is thick and sticky.

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