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Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. [4] [5] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive.
The disease is widespread in the tropical and ... Sickle cell trait causes a change in the haemoglobin molecule in the blood. ... Although the shorter life expectancy ...
Fetal hemoglobin, or foetal haemoglobin (also hemoglobin F, HbF, or α 2 γ 2) is the main oxygen carrier protein in the human fetus.Hemoglobin F is found in fetal red blood cells, and is involved in transporting oxygen from the mother's bloodstream to organs and tissues in the fetus.
Lafora disease is a rare, adult-onset and autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle ...
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
The life expectancy for women is 63 years while for men, it is 60 years. [18] The infant mortality rate is 41 out of every 1000 live births. ... sickle cell disease ...
The pathogen that causes the disease spends part of its cycle in the red blood cells and triggers an abnormal drop in oxygen levels in the cell. In carriers, this drop is sufficient to trigger the full sickle-cell reaction, which leads to infected cells being rapidly removed from circulation and strongly limiting the infection's progress.
Hereditary spherocytosis is the heritable hemolytic disorder, affecting 1 in 2,000 people of Northern European ancestry. [5] According to Harrison's Principles of Internal Medicine, the frequency is at least 1 in 5,000 within the United States of America. [6]