Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia
- PMID:2434529
- PMCID: PMC424211
- DOI: 10.1172/JCI112890
Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia
Abstract
Hemoglobin Mississippi (HbMS: beta 44ser----cys) has anomalous properties that include disulfide linkages with normal beta-, delta-, gamma-, and alpha-chains, and the formation of high molecular weight multimers. While heterozygotes for HbMS are clinically and hematologically normal and carriers of the beta +-thalassemia gene in our family had mild microcytic anemia, the proband with HbMS-beta +-thalassemia had a hemoglobin level of 7 g/dl, mean corpuscular volume (MCV) of 68 fl, reticulocytes of 2-6%, HbF of 18%, marked anisocytosis and poikilocytosis, and splenomegaly, all features of thalassemia intermedia. With oxidant stress, her erythrocytes developed multiple dispersed Heinz bodies, but HbMS was only mildly unstable. HbMS was susceptible to proteolytic degradation in the presence of ATP. The unexpectedly severe clinical findings in HbMS-beta +-thalassemia may result from the proteolytic digestion of HbMS, as well as the excessive alpha-chains characteristic of beta +-thalassemia, which combined provide the increment of cellular damage that results in the phenotype of thalassemia intermedia.
Similar articles
- Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.Stamatoyannopoulos G, Woodson R, Papayannopoulou T, Heywood D, Kurachi S.Stamatoyannopoulos G, et al.N Engl J Med. 1974 Apr 25;290(17):939-43. doi: 10.1056/NEJM197404252901705.N Engl J Med. 1974.PMID:4361439No abstract available.
- beta+-Thalassemia intermedia with low HbF.Zago MA, Costa FF, Bottura C.Zago MA, et al.Klin Wochenschr. 1983 Jan 17;61(2):95-8. doi: 10.1007/BF01496661.Klin Wochenschr. 1983.PMID:6188877
- The effect of alpha-thalassemia on the level of hybrid hemoglobin variants in heterozygotes.Lanclos KD, Kutlar A, Kutlar F, Ojwang PJ, Reese AL, Huisman TH.Lanclos KD, et al.Hemoglobin. 1986;10(4):401-16. doi: 10.3109/03630268608996870.Hemoglobin. 1986.PMID:2427479
- [Current views of thalassemia intermedia].Longinotti M, Dore F, Oggiano L, Pardini S, Pistidda P, Guiso L, Frogheri L, Bonfigli S, Murineddu M, Rimini E.Longinotti M, et al.Recenti Prog Med. 1992 Apr;83(4):233-40.Recenti Prog Med. 1992.PMID:1626119Review.Italian.
- The potential molecular mechanism of thalassemias and related disorders.Weatherall DJ.Weatherall DJ.Ann N Y Acad Sci. 1974 Nov 29;241(0):132-41. doi: 10.1111/j.1749-6632.1974.tb21873.x.Ann N Y Acad Sci. 1974.PMID:4611304Review.No abstract available.
Cited by
- Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).Coleman MB, Lu ZH, Smith CM 2nd, Adams JG 3rd, Harrell A, Plonczynski M, Steinberg MH.Coleman MB, et al.J Clin Invest. 1995 Feb;95(2):503-9. doi: 10.1172/JCI117691.J Clin Invest. 1995.PMID:7860732Free PMC article.
References
Publication types
MeSH terms
Substances
Related information
Grants and funding
LinkOut - more resources
Full Text Sources
Medical