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

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

Research output: Contribution to journalArticle

41 Citations (Scopus)

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

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Pernicious Anemia
Thalassemia
Globins
Gene Deletion
Megaloblastic Anemia
Restriction Mapping
Erythrocyte Indices
Vitamin B 12
Folic Acid
Gene Frequency
Population
Leukocytes
Genotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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.

Masking of macrocytosis by α-thalassemia in blacks with pernicious anemia. / Green, Ralph; Kuhl, W.; Jacobson, R.; Johnson, C.; Carmel, R.; Beutler, E.

In: New England Journal of Medicine, Vol. 307, No. 21, 1982, p. 1322-1325.

Research output: Contribution to journalArticle

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, vol. 307, no. 21, pp. 1322-1325.
Green R, Kuhl W, Jacobson R, Johnson C, Carmel R, Beutler E. Masking of macrocytosis by α-thalassemia in blacks with pernicious anemia. New England Journal of Medicine. 1982;307(21):1322-1325.
Green, Ralph ; Kuhl, W. ; Jacobson, R. ; Johnson, C. ; Carmel, R. ; Beutler, E. / Masking of macrocytosis by α-thalassemia in blacks with pernicious anemia. In: New England Journal of Medicine. 1982 ; Vol. 307, No. 21. pp. 1322-1325.
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