Anemia, nonspherocytic hemolytic, due to G6PD deficiency(CNSHA1)

MedGen UID:: 403555
•Concept ID:: C2720289
•: Disease or Syndrome

Synonyms:	ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1; Class I glucose-6-phosphate dehydrogenase deficiency; CNSHA1; Favism, susceptibility to; Hemolytic anemia due to G6PD deficiency
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Genes (locations): Gene(s) directly associated with this condition or phenotype.	CASK (Xp11.4); G6PD (Xq28)

Monarch Initiative:	MONDO:0010480
OMIM®:	300908
Orphanet:	ORPHA466026

Definition

Congenital nonspherocytic hemolytic anemia-1 (CNSHA1), caused by mutation in the G6PD gene, is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). [from OMIM]

Additional description

From MedlinePlus Genetics
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.

The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism).

Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms and are unaware that they have the condition. https://medlineplus.gov/genetics/condition/glucose-6-phosphate-dehydrogenase-deficiency

Clinical features

From HPO

Abdominal pain

MedGen UID:: 7803
•Concept ID:: C0000737
•: Sign or Symptom

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

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Hemoglobinuria

MedGen UID:: 6792
•Concept ID:: C0019048
•: Finding

The presence of free hemoglobin in the urine.

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Jaundice

MedGen UID:: 43987
•Concept ID:: C0022346
•: Sign or Symptom

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

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Prolonged neonatal jaundice

MedGen UID:: 347108
•Concept ID:: C1859236
•: Finding

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.

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Heinz bodies