Advertisement

Human Genetics

, Volume 70, Issue 2, pp 119–125 | Cite as

The interaction of hemoglobin O Arab with Hb S and β+ thalassemia among Israeli Arabs

  • Eliezer A. Rachmilewitz
  • Hanna Tamari
  • Fanny Liff
  • Yoshihiro Ueda
  • R. L. Nagel
Original Investigations
First Online:

Summary

We have studied 105 individuals in the village of Jasser El Zarka in the Northern Coast of Israel of whom 59% had at least one abnormal hemoglobin. Of the individuals studied 41% were AA, 13.3% AS, 28.6% AOArab, 10.5% SOArab, 0.9% SS, 38% Arab-β+ Thal, and 1.9% β Thal trait. The SOArab double heterozygotes were characterized by a normal mean corpuscular volume (MCV) and mean corpuscular hemoglobin concentration (MCHC), and an increase of Hb F (11.7±4.3%) and 2,3-diphosphoglycerate levels (27.8 μm/g Hb). The increase of Hb F is higher than the one seen among OArabs of other ethnic backgrounds. Their clinical course was moderately severe and osteoporosis was quite frequent. The interactions of Hb OArab and Hb S were studied in vitro and it was confirmed the Hb OArab lowers the minimal gelling concentration of mixtures with Hb S (as compared to mixtures of Hb S and Hb A), but that this effect is ionic-strength dependent. Our data are in conflict with previous claims that Hb OArab mixtures with Hb S polymerized almost as much as pure S. Oxygen association curves show a significant displacement of the p50 to the right, but the effect of oxygen dissociation is less apparent. The displacement was not nearly as significant as with SS cells, confirming our gelation data. Blood group determinations establish that these Arab populations had black African admixture.

The Hb OArab/β+ Thal double heterozygotes exhibit moderate anemia (10.3g% of Hb) and the percentage of Hb A was 17.2±1.8%. The fetal Hb was 5.4±2.1% and the 2,3-diphosphoglycerate level in two cases was 17.4 μmol/g Hb. The only case of a homozygote SS had moderate anemia (10.3 g Hb%), 25.7% of Hb F, and a very benign course.

Keywords

Osteoporosis Thalassemia Mean Corpuscular Volume Northern Coast Corpuscular Volume 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Baglioni C, Lehmann H (1962) Chemical heterogeneity of hemoglobin O. Nature 196:229–232CrossRefGoogle Scholar
  2. Betke K, Marti HR, Schlicht I (1959) Estimation of small percentages of foetal hemoglobin. Nature 184:1877–1878CrossRefGoogle Scholar
  3. Boyd WC (1963) Genetics and the human race. Science 140:1057–1064CrossRefGoogle Scholar
  4. Bratu C, Predescu N, Patea V, Apateanu V, Lehmann H (1975) Hemoglobin O Arabia. Consideration on the first nine cases discovered in Romania. Med Interne 13:141–145PubMedGoogle Scholar
  5. Charache S, Grisolia S, Fiedler AJ, Hellegers AE (1970) Effect of 2.3-diphosphoglycerate of oxygen affinity of blood in sickle cell anemia. J Clin Invest 49:806–812CrossRefGoogle Scholar
  6. Cividalli G, Kevem H, Rachmilewitz EA (1977) Homozygous β#x00B0; and β#x002B; thalassemia in Kurdishzews and Arabs. Hemoglobin 1:334–337CrossRefGoogle Scholar
  7. Dacie JV, Lewis SM (1975) Practical haematology, 5th edn. Churchill Livingstone, LondonGoogle Scholar
  8. Efremov GD, Sadikario A, Stojancov A, Dojanov D, Huisman THJ (1977) Homozygous hemoglobin O Arab in a gypsy family in Yugoslavia. Hemoglobin 1:389–394CrossRefGoogle Scholar
  9. Fabry ME, Kaul DK, Raventos-Suarez C, Chang H, Nagel RL (1982) SC erythrocytes have an abnormally high intracellular hemoglobin concentration. J Clin Invest 70:1315–1319CrossRefGoogle Scholar
  10. Ibrahim SA, Mustafa D (1967) Sickle cell hemoglobin O disease in a Sudanese family. Br Med J 16:715–717CrossRefGoogle Scholar
  11. Kamel KA, Hoerman KC, Awny AY (1967) 124-3 chemical identification in an Egyption family. Science 156:397–398CrossRefGoogle Scholar
  12. Kantchev KN, Tcholakov B, Baglioni C, Colombo B (1965) Hemoglobin O Arab in Bulgaria. Nature 205:187–188CrossRefGoogle Scholar
  13. Kleihauer E, Braun H, Betke K (1957) Demonstration von fetalem Hämoglobin in den Erythrocyten. Klin Wochenschr 35:637–638CrossRefGoogle Scholar
  14. Lie-Injo LE, Sandono J (1958) Hemoglobin O in Sulawesi. Br Med J 1:1461–1462CrossRefGoogle Scholar
  15. Liff F Personal communicationGoogle Scholar
  16. McCrudy PR, Mahmood L, Sherman AS (1975) Red cell life span in sickle cell hemoglobin C disease with a note about sickle cell hemoglobin C Arab. Blood 45:273–279CrossRefGoogle Scholar
  17. Milner PF, Miller C, Grey R, Seakins M, DeJong WW, Went LN (1970) Hemoglobin O Arab in four Negro families and its interaction with hemoglobin S and hemoglobin. C. N Engl J Med 283:1417–1425CrossRefGoogle Scholar
  18. Mourant AE, Kopec AC, Domaniewska-Sobczak K (1976) Distribution of the human blood groups and other polymorphisms, 2nd edn. Oxford University Press, London, pp 109–111Google Scholar
  19. Nagel RL, Chang H (1981) Methods for the study of sickling and hemoglobin S gelation. Methods Enzymol 76Google Scholar
  20. Race RR, Sanger R (1975) Blood groups in man, 6th edn. Blackwell, Oxford, p 508, 194Google Scholar
  21. Ramot B, Fisher S, Remez D, Schneerson R, Kahane D, Ager JAM, Lehmann H (1960) Hemoglobin O in an Arab family. Br Med J 2:1262–1264CrossRefGoogle Scholar
  22. Robinson AR, Robson M, Harrison AP, Zuelzer WW (1957) A new technique for differentiation of hemoglobin. J Lab Clin Med 50:745PubMedGoogle Scholar
  23. Roth EF Jr, Rachmilewitz E, Schifter A, Nagel RL (1978) Benign sickle cell anemia in Israeli Arabs with high red cell 2,3-diphosphoglycerate. Acta Haematol (Basel) 59:237–245CrossRefGoogle Scholar
  24. Roth EF Jr, Schiliro G, Russo A, Musumeci S, Rachmilewitz E, Neske V, Nagel RL (1980) Sickle cell disease in Sicily. J Med Genet 17:34–38CrossRefGoogle Scholar
  25. Rozman RS, Sacks RP, Kates R (1963) Rapid measurement of hemoglobin A2 by means of cellulose acetate membrane electrophoresis. J Lab Clin Med 62:692–698PubMedGoogle Scholar
  26. Sharma RS, Williams L, Baptist NG, Fisher WK, Thompson OP (1976) Hemoglobin C and hemoglobin O Arab-thalassemia in families of Greek origin. Pathology 8:89–93CrossRefGoogle Scholar
  27. Smithies O (1959) An improved procedure for starch gel electrophoresis; further variations in the serum proteins of normal individuals. Biochem J 74:585–587Google Scholar
  28. Ueda Y, Bookchin RM, Nagel RL (1978) A decreased effect of organic phosphates on hemoglobin S at low concentrations. Biochem Biophys Res Commun 85:526–631CrossRefGoogle Scholar
  29. Vella F, Beale D, Lehmann H (1966) Hemoglobin O Arab in Sudanese. Nature 209:308–309CrossRefGoogle Scholar
  30. Weatherall DJ, Clegg JB, Na-Nakorn S, Wasi P (1969) The pattern of disordered hemoglobin synthesis in homozygous and heterozygous β-thalassemia. Br J Haematol 16:251–267CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • Eliezer A. Rachmilewitz
    • 1
  • Hanna Tamari
    • 1
  • Fanny Liff
    • 2
  • Yoshihiro Ueda
    • 3
  • R. L. Nagel
    • 3
  1. 1.Hematology ServiceHadassah University Hospital, Mount Scopus Hebrew University Hadassah Medical SchoolJerusalemIsrael
  2. 2.Hematology InstituteHillel Jaffe Government HospitalHederaIsrael
  3. 3.Division of Hematology, Department of MedicineAlbert Einstein College of MedicineBronxUSA

Personalised recommendations

Cite article

Buy options