in what type of anemia is jaundice most likely to occur

Description

Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that affects red claret cells, which bear oxygen from the lungs to tissues throughout the body. In afflicted individuals, a defect in an enzyme chosen glucose-6-phosphate dehydrogenase causes red claret cells to interruption down prematurely. This destruction of scarlet blood cells is called hemolysis.

The well-nigh mutual medical trouble associated with glucose-half dozen-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when crimson blood cells are destroyed faster than the torso 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 sure drugs (such every bit some antibiotics and medications used to treat malaria). Hemolytic anemia tin 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 pregnant cause of mild to astringent jaundice in newborns. Many people with this disorder, withal, never experience any signs or symptoms and are unaware that they have the condition.

Frequency

An estimated 400 million people worldwide take glucose-6-phosphate dehydrogenase deficiency. This status occurs about frequently in certain parts of Africa, Asia, the Mediterranean, and the Middle East. Information technology affects about 1 in ten African American males in the United States.

Causes

Glucose-6-phosphate dehydrogenase deficiency results from mutations in the G6PD cistron. This gene provides instructions for making an enzyme called glucose-six-phosphate dehydrogenase. This enzyme is involved in the normal processing of carbohydrates. It besides protects red blood cells from the effects of potentially harmful molecules called reactive oxygen species, which are byproducts of normal cellular functions. Chemical reactions involving glucose-vi-phosphate dehydrogenase produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells.

If mutations in the G6PD factor reduce the corporeality of glucose-half-dozen-phosphate dehydrogenase or alter its structure, this enzyme can no longer play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or ingesting fava beans tin increase the levels of reactive oxygen species, causing cerise blood cells to exist destroyed faster than the body can replace them. A reduction in the number of red blood cells causes the signs and symptoms of hemolytic anemia.

Researchers believe that people who have a G6PD mutation may be partially protected against malaria, an communicable diseases carried by a certain type of mosquito. A reduction in the corporeality of functional glucose-6-phosphate dehydrogenase appears to make information technology more difficult for this parasite to invade red blood cells. Glucose-6-phosphate dehydrogenase deficiency occurs most oft in areas of the world where malaria is common.

Inheritance

Glucose-6-phosphate dehydrogenase is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the Ten chromosome, one of the two sex chromosomes in each prison cell. Males have simply i X chromosome and females have two copies of the X chromosome. A feature of X-linked inheritance is that fathers cannot pass Ten-linked traits to their sons.

In females, who take 2 copies of the Ten chromosome, one contradistinct copy of the G6PD factor in each cell tin lead to less severe features of the condition or may crusade no signs or symptoms at all. Yet, many females with one altered copy of this gene have glucose-6-phosphate dehydrogenase deficiency similar to afflicted males because the X chromosome with the normal re-create of the G6PD gene is turned off through a procedure called Ten-inactivation. Early on in embryonic evolution in females, one of the ii X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have merely one active re-create of the Ten chromosome in each body jail cell. Usually X-inactivation occurs randomly, such that each Ten chromosome is active in virtually half of the body cells. Sometimes X-inactivation is not random, and 1 X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation.

Research shows that females with glucose-6-phosphate dehydrogenase deficiency acquired by mutation of the G6PD gene often have skewed X-inactivation, which results in the inactivation of the Ten chromosome with the normal copy of the G6PD gene in nigh cells of the body. This skewed 10-inactivation causes the chromosome with the mutated G6PD factor to be expressed in more half of cells. As a upshot, not enough normal glucose-vi-phosphate dehydrogenase enzyme is produced, leading to hemolytic anemia and other signs and symptoms of glucose-vi-phosphate dehydrogenase deficiency.

Other Names for This Condition

• Deficiency of glucose-six-phosphate dehydrogenase
• G6PD deficiency
• G6PDD
• Glucose 6 phosphate dehydrogenase deficiency

References

• Cappellini MD, Fiorelli Yard. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. doi: 10.1016/S0140-6736(08)60073-2. Review. Commendation on PubMed
• Frank JE. Diagnosis and direction of G6PD deficiency. Am Fam Dr.. 2005 Oct 1;72(7):1277-82. Review. Citation on PubMed
• Luzzatto L, Nannelli C, Notaro R. Glucose-6-Phosphate Dehydrogenase Deficiency. Hematol Oncol Clin North Am. 2016 Apr;thirty(2):373-93. doi: 10.1016/j.hoc.2015.eleven.006. Review. Commendation on PubMed
• Manganelli Chiliad, Masullo U, Passarelli Due south, Filosa S. Glucose-vi-phosphate dehydrogenase deficiency: disadvantages and possible benefits. Cardiovasc Hematol Disord Drug Targets. 2013 Mar 1;xiii(1):73-82. Review. Citation on PubMed
• Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler Eastward. The global prevalence of glucose-six-phosphate dehydrogenase deficiency: a systematic review and meta-assay. Blood Cells Mol Dis. 2009 May-Jun;42(3):267-78. doi: x.1016/j.bcmd.2008.12.005. Epub 2009 Feb 23. Review. Commendation on PubMed

sixthistil.blogspot.com

Source: https://medlineplus.gov/genetics/condition/glucose-6-phosphate-dehydrogenase-deficiency/

Share this post