Question

LAQ : Brief notes on thalassemia as an autosomal chromosomal disorder and its genetic counselling

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Answer

Thalassemia as an Autosomal Chromosomal Disorder:

Thalassemia is an autosomal chromosomal disorder that affects haemoglobin production, leading to abnormal red blood cells and anaemia. It can be alpha or beta thalassemia based on which globin chain is affected.

Genetic Counselling for Thalassemia:

Genetic counselling helps individuals or couples understand the risk of thalassemia based on family history and genetic testing. It offers carrier screening, reproductive options, family planning advice, and emotional support to make informed decisions about managing the condition and reducing the risk of passing it to future generations.

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