Biomedical Science

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Hey There Biochemists 👋 Do You Know 🤔

A large number of mutations have been described in the globin genes. These mutations can be divided into 2 distinct types: those that cause qualitative abnormalities (eg, sickle cell anemia) and those that cause quantitative abnormalities (the thalassemias).

Taken together these disorders are referred to as the hemoglobinopathies. Of the mutations leading to qualitative alterations in hemoglobin, the missense mutation in the β globin gene that causes sickle cell anemia is the most common.

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Do You Know? 🤔

Folate deficiency results in complications
nearly identical to those of vitamin B12 deficiency. The most pronounced effect of folate deficiency on cellular processes is upon DNA synthesis. This is due to an impairment in dTMP synthesis, in particular in hematopoietic cells. The inability to synthesize DNA during erythrocyte maturation leads to abnormally large (macrocytic) erythrocytes and anemia.

Note: This is mostly common in pregnant women whose diet consist mainly of Starch with little meat and green veggies.

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