Genetics: What is the most likely diagnosis in this case? What is the function o
ID: 98409 • Letter: G
Question
Genetics:
What is the most likely diagnosis in this case?
What is the function of Glucose-6-phosphate dehydrogenase (G6PD) and for the evolutionary perspective G6PD deficiency and SIcle cell anemia are related, could you explain how?
Some patients are asymptomatic to this condition, but often0clinical symptoms are detected related to which trigger?
Draw a map where sickle cell anemia and G6PD deficiency appears to be more prevalent?
CASE 5 A 40 year-old man is presented weakness since two diagnose ago. In the physical exam he is ta Blood sampling is performed and shown lwctericia, andm s presented to the consult complaining of chronic fatigue, and o days ago. He has relatives from the south of Italy, and has been culosis. He has been started in antituberculous therapy a week exam he is taquicardic, with ictericia, and mild splenomegaly. med and shown lower levels of haemoglobin, low haematocrit, two days ago. H d with Tuberculosis. He has b vated bilirubin bilirubin. You suspect of a X-linked recessive disease. and elevatedExplanation / Answer
G6PD deficiency is a hereditary disease which is x linked recessive disorder.
Glucose-6-phosphate dehydrogenase is responsible for the first step in the pentose phosphate pathway, a series of chemical reactions that convert glucose (a type of sugar found in most carbohydrates) to another sugar, ribose-5-phosphate.This enzyme helps protect red blood cells from damage and premature destruction.Its deficiency predisposes a person to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness, or medication. The condition is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase, an enzyme involved in the pentose phosphate pathway that is especially important in the red blood cell. G6PD deficiency is the most common human enzyme condition.
Carriers of the G6PD allele appear to be partially or fully protected against malaria, with some cases of affected individuals showing complete immunity to the disease.The trigger my be a certain food like consumption of fava beans and that is why the disease is also called as favism.
The disease is Exclusively found in males and Carriers of the G6PD allele (which are the females) appear to be partially or fully protected against malaria, with some cases of affected individuals showing complete immunity to the disease.
It is particularly common in people of Mediterranean and African origin.
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