Masking of macrocytosis by α-thalassemia in blacks with pernicious anemia

Ralph Green, W. Kuhl, R. Jacobson, C. Johnson, R. Carmel, E. Beutler

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41 Scopus citations

Abstract

In view of the known high prevalence of α-thalassemia in blacks and the reported abrogration of typical macrocytosis in patients who have a deficiency of folate or vitamin B12 with coexistent thalassemia, we analyzed α-globin genotypes in peripheral-blood leukocytes from 6 black patients with pernicious anemia, using restriction-endonuclease mapping. At the time of presentation, these patients had been remarkable for a lack of notable macrocytosis associated with their megaloblastic condition. 4 of the 6 patients were found to have one or two α-globin-gene deletions, and in a fifth patient the ratio of α- to β-globin-chain synthesis was abnormal, suggesting the existence in that patient of a non-deletion type of α-thalassemia. The occurrence of α-thalassemia and the gene frequency for α-globin-gene deletions were both significantly greater in this group of patients than in the black population at large. Coexistence of α-globin-chain deletions in black patients with pernicious anemia results in a normal or only slightly elevated mean cell volume, masking the macrocytic expression of megaloblastic anemia. Consequently, the diagnosis of pernicious anemia may be overlooked in black patients - a population for whom there may already be a low index of suspicion for this disease.

Original languageEnglish (US)
Pages (from-to)1322-1325
Number of pages4
JournalNew England Journal of Medicine
Volume307
Issue number21
StatePublished - 1982
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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    Green, R., Kuhl, W., Jacobson, R., Johnson, C., Carmel, R., & Beutler, E. (1982). Masking of macrocytosis by α-thalassemia in blacks with pernicious anemia. New England Journal of Medicine, 307(21), 1322-1325.