Hereditary Hemolytic Anemia Associated with Red Blood Cell Enzyme Deficiency

Hereditary Hemolytic Anemia Associated with Red Blood Cell Enzyme Deficiency 

The major clinical features of hemolysis include anemia, jaundice, splenomegaly, and cholelithiasis. Anemia is normochromic in most cases. Macrocytosis and polychromatophilia are seen in patients with marked reticulocytosis. Red 

Defects in the Embden-Meyerhof Pathway 3.2.1. Hexokinase Deficiency 

Hexokinase (Hx) deficiency in red blood cells is a rare disease in which the predominant clinical effect is chronic nonspherocytic hemolytic anemia. After the 

Mutations in GK (Hx IV) causes maturity-onset diabetes of the young (MOD Y), a form of non-insulin-dependent diabetes mellitus (NIDDM) characterized by onset before 25 years of age and an autosomal dominant inheritance (PI 2). This suggests that the mutations in other forms of Hx may also contribute to the development of NIDDM. Among them, Hx II is a particularly attractive candidate, although this isozyme is not expressed in red blood cells. Hx II has been analyzed extensively in the muscle of prediabetic insulin-resistant individuals. But studies have shown that Hx II mutation alone is unlikely to have a significant role in the development of peripheral insulin resistance and NIDDM (L6). 

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