Macrocytic anemia in Lesch-Nyhan disease and its variants.

ABSTRACT:

Purpose

Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was  to describe macrocytic erythrocytes as another common aspect of the phenotype.

Methods

The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen regularly.

Results

Macrocytic erythrocytes occurred in 81-92% of subjects with Lesch-Nyhan disease or its neurological variants. After excluding cases with iron deficiency because it might pseudonormalize erythrocyte volumes, macrocytosis occurred in 97% of subjects. Macrocytic erythrocytes were sometimes accompanied by mild anemia, and rarely by severe anemia.

C

SUBMITTER: Cakmakli HF 

PROVIDER: S-EPMC6281870 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature