Cytochrome b5 deficiency

Cytochrome b5 deficiency is a genetic disorder that can be inherited as an autosomal recessive trait. It is one of two types of congenital methemoglobinemia, a rare disease that can result from a deficiency in cytochrome b5 reductase or cytochrome b5, or a mutation in the globin molecule. This condition can lead to the formation of hemoglobin M, which increases oxygen affinity and impairs oxygen delivery to the tissues.From: Myeloproliferative Disorders [2007], ‘Acute leukemia in congenital methehemoglobinemia - an enigma to explore’ [2019]

Congenital Causes of Erythrocytosis/Polycythemias and Thrombocytosis

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Published in Richard T. Silver, Ayalew Tefferi, Myeloproliferative Disorders, 2007

Josef T. Prchal, Radek C. Skoda

There are three types of hereditary methemoglobinemias [reviewed by Gregg and Prchal (71)]. Two are inherited as autosomal recessive traits: cytochrome b5R deficiency and cytochrome b5 deficiency. The third type is an autosomal dominant disorder, hemoglobin M (Hb M) disease, in which there is a mutation of one of the globin genes. All congenital methemoglobinemias are associated with suboptimal delivery of oxygen per red cell and this may result in compensatory secondary appropriate polycythemia. The resulting polycythemia is typically mild and its treatment is ill-advised, as it would only decrease tissue oxygen delivery and lead to tissue hypoxia.

‘Acute leukemia in congenital methehemoglobinemia - an enigma to explore’

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Journal Information

Published in Journal of Community Hospital Internal Medicine Perspectives, 2019

Jaafar F. Al-Khafaji, Mokshya Sharma, Khazi Nayeemuddin, Iman A. Al-Qaysi, Arshad A Al-Mashhadani, Mohamed E. Taha, Abubaker O. Abdalla

Congenital methemoglobinemia is a rare disease resulting from cytochrome b5 reductase deficiency, cytochrome b5 deficiency or a mutation in globin molecule leading to hemoglobin M formation that leads to increased oxygen affinity and impaired oxygen delivery to the tissues [1].

Cytochrome b5 deficiency

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Congenital Causes of Erythrocytosis/Polycythemias and Thrombocytosis

‘Acute leukemia in congenital methehemoglobinemia - an enigma to explore’