Mean corpuscular hemoglobin is increased in Martin-Bell syndrome.
Studying the blood picture of 11 patients with Martin-Bell syndrome, we found the erythrocytes relatively hyperchromic when compared to the data from 171 matched controls living in the same institution. Because mean corpuscular hemoglobin is increased also in patients with folic acid deficiency states, we feel that our data provide further evidence that Martin-Bell syndrome is an inherited disease of folate metabolism.
D000328:Adult; D004909:Erythrocyte Indices; D005494:Folic Acid Deficiency / Q000097:blood*; D006801:Humans; D008607:Intellectual Disability / Q000097:blood*; D008297:Male; D013577:Syndrome