Skip to main content
SpringerLink
Log in

Hemoglobin abnormalities

An evaluation on new-born infants and their mothers in a maternity unit close to Brazzaville (P.R.Congo)

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

In order to evaluate the polymorphism of hemoglobin in a population of Equatorial Africa, we undertook a prospective study of 146 births at a rural maternity hospital close to Brazzaville (P.R. Congo). This showed among the mothers 31 (22%) carriers of the sickle cell trait (AS), six with δ mutation, and two with β-thalassemia triat. Among the children, 27 (18.5%) had sickle cell trait and one had sickle cell homozygosity. The frequency of the HbF Sardinia trait was 7.5%. This and other studies suggested a dilution gradient from Europe to Africa. Hemoglobin Bart's could be visually detected in 23.3% of the new-born babies. We attempted to distinguish between those infants with a high level of Hb Bart's (Bart's ++ group: 13.7%) and a group with a detectable Hb Bart's level that in our experimental conditions is between 1 and 2% (Bart's + group: 9.6%). Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were 88.6 ±5.7 fl and 29.0±2.1 pg in the Bart's ++ group; 94.5±10.9 fl and 30.6±4.1 pg in the Bart's + group; whereas they were 101.0±8.7 fl and 33.9±2.5 pg in the control group. Since iron dificiencies are very rare in new-borns and selecting according to published data on black people as homozygous α-thalassemia of the type I (-α/-α), individuals of the Bart's ++ group whose MCV was below 95 fl and MCV below 30 pg, the gene frequency is estimated to be 34% and that of heterozygotes (-α/αα) 45%. These high frequencies were confirmed in AS mothers: 45% showed a significant decrease of the S fraction.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Bard H, Makowski EL, Meschia G, Battaglia FC (1970) The relative rates of synthesis of hemoglobins A and F in immature red cells of new-born infants. Pediatrics 45:766–772

    Google Scholar 

  • Bard H, Prosmanne J (1982) Postnatal fetal and adult hemoglobin synthesis in preterm infants whose birth weight was less than 1,000 grams. J Clin Invest 70:50–52

    Google Scholar 

  • Basset P, Beuzard Y, Garel MC, Rosa J (1978) Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the study of modified fractions of normal hemoglobins. Blood 51:971–982

    Google Scholar 

  • Basset P, Braconnier F, Rosa J (1982) An update on electrophoretic and chromatographic methods in diagnosis of hemoglobinopathies. J Chromatogr 227:267–364

    Google Scholar 

  • Bernini LF, Giodano PC, van Lith DAF (1980) Frequency and quantitative levels of Tγ chain (Hb F Sardinia) in the fetal hemoglobin of new-borns and fetuses. Hemoglobin 4:469–482

    Google Scholar 

  • Beuzard Y, Galacteros F, Braconnier F, Dubart A, Chen Marotel J, Caburi-Martin J, Monplaisir N, Sellaye M, Saint-Martin C, Seytor S, Basset P, Rosa J (1981) Isoelectric focusing of human hemoglobins. Prog Clin Biol Res 60:177–195

    Google Scholar 

  • Brittenham G, Lozoff B, Harris JW, Kan YW, Dozy AM, Nayudu NVS (1980) Alpha globin gene number: population and restriction endonuclease studies. Blood 55:706–708

    Google Scholar 

  • Burke J, de Bock G, de Wulf O (1958) La drépanocytose simple et l'anémie drépanocytaire au Kwango (Congo Belge). Mémoires in-8, Acad Roy Sci Coloniales, Bruxelles, Nouvelle série, 7.

    Google Scholar 

  • Carnevale P, Bosseno MF, Lallemant M, Feingold J, Lissouba P, Molinier M, Mouchet J (1981) Le paludisme à plasmodium falciparum et le gène de la drépanocytose en République Populaire du Congo. I. Relation entre la parasitémie et le trait drépanocytaire à Djoumouna (Région de Brazzaville). Ann Genet (Paris) 24:100–104

    Google Scholar 

  • Chen-Marotel J, Beuzard Y, Kak Trung B, Braconnier F, Rosa J, Guerrasio A, Saglio G, Camaschella C, Ricco G (1980) Polymorphism of human fetal haemoglobin studied by isoelectric focusing. FEBS Lett 115:68–70

    Google Scholar 

  • Davis JR, Dozy AM, Lubin B, Koenig HM, Pierce HI, Stamatoyannopoulos G, Kan YW (1979) α-Thalassemia in blacks is due to gene deletion. Am J Hum Genet 31:569–573

    Google Scholar 

  • Delbrouck J (1958) Contribution à la génétique de la sicklémie. Maintien de la fréquence élevée de la sicklémie au Congo belge. Ann Soc Belge Med Trop 38:103–133

    Google Scholar 

  • Dozy AM, Kan YW, Embury SH, Mentzer WC, Wang WC, Lubin B, Davis JR, Koenig HM (1979) Alpha globin gene organisation in blacks preludes the severe form of α-thalassemia. Nature 280: 605–607

    Google Scholar 

  • Embury SH, Dozy AM, Miller MT, Davis JR, Kleman KM, Preisler H, Vichinsky E, Lande WN, Lubin BH, Kan YW, Mentzer WC (1982) Concurrent sickle-cell anemia and α thalassemia effect on severity of anemia. N Engl J Med 306:270–274

    Google Scholar 

  • Folayan Esan GJ (1972) Haemoglobin Bart's in new-born Nigerian. Br J Haematol 22:73–86

    Google Scholar 

  • Friedman S, Atwater J, Gill FM, Frances M, Schwartz E (1974) α-Thalassemia in negro infants. Pediatr Res 8:955–959

    Google Scholar 

  • Galacteros F, Kleman K, Caburi-Martin J, Beuzard Y, Lubin B (1980) Cord blood screening of hemoglobinopathies. Comparison of isoelectric focusing to classical methods. Blood 56:1068–1071

    Google Scholar 

  • Grifoni V, Kamuzora H, Lehmann H, Charlesworth D (1975) A new Hb F variant: F Sardinia γ 75 (E 19) isoleucine→threonine found in a family with Hb G Philadelphia, β chain deficiency and a lepore-like haemoglobin, indistinguishable from Hb A2. Acta Haematol (Basel) 53:347–355

    Google Scholar 

  • Hadjiminas M, Zachariadis Z, Stamatoyannopoulos G (1979) α-Thalassemia in Cyprus. J Med Genet 16:363–365

    Google Scholar 

  • Hendrickse RG, Boyd AE, Fitzgerald PA, Ransome Kuti S (1960) Studies on the hemoglobins of new-born Nigerians. Br Med J [Clin Res] 1:611–614

    Google Scholar 

  • Higgs DR, Pressley L, Old JM, Hunt DM, Clegg JB, Weatherall DJ, Serjeant GR (1979) Negro α-thalassemia is caused by deletion of a single α globin gene. Lancet I:272–276

    Google Scholar 

  • Higgs DR, Pressley L, Clegg JB, Weatherall DJ, Higgs S, Carey P, Serjeant GR (1980) Detection of alpha thalassemia in Negro infants. Br J Haematol 46:39–46

    Google Scholar 

  • Higgs DR, Albridge BE, Lamb J, Clegg JB, Weatherall DJ, Hayes RJ, Grandison Y, Lowrie Y, Mason KP, Serjeant BE, Serjeant GR (1982) The interaction of alpha-thalassemia and homozygous sickle-cell disease. N Engl J Med 306:1441–1446

    Google Scholar 

  • Le Coeur S (1980) Le paludisme et la drépanocytose. Thèse Doctorale Médicale, Université Paris VI

  • Le Franc MF, Le Franc G, Farhat M, Jmour R, Boukef K, Beuzard Y, Galacteros F, Rosa J (1981) Frequency of human 58-1 globin chain in a population from Tunisia. Hum Genet 59:89–91

    Google Scholar 

  • Livingstone FB (1971) Malaria and human polymorphism. Annu Rev Genet 5:33–64

    Google Scholar 

  • Melis MA, Rosatelli C, Falchi AM, Angius A, Furbetta M, Galanello R, Cao A (1980) Hematological characteristics of Sardinian α thalassemia carriers detected in a population study. Acta Haematol (Basel) 63:32–36

    Google Scholar 

  • Minnich V, Cordonner JJ, Williams WJ, Moore CV (1962) Alpha, beta and gamma globulin polypeptide chains during the neonatal period with a description of a fetal form of hemoglobin D α St-Louis. Blood 19:137–140

    Google Scholar 

  • Monplaisir N, Cassius de Linval J, Sellaye M, Galacteros F, Braconnier F, Beuzard Y, Hilbert J, Mezin R, Quist C, Duville J, Rosa J (1981) Dépistage des hémoglobinopathies à la naissance par isoélectrofocalisation. Etude de la population de la Martinique. Nouv Presse Méd 10:3127–3130

    Google Scholar 

  • Morton BF, Thompson RB, Dozy AM, Nechtman CM, Nichols E, Huisman THJ (1962) Inhomogeneity of hemoglobin IV. The minor hemoglobin components of cord blood. Blood 20:302–310

    Google Scholar 

  • Nhonoli AM, Kujwalile JM, Mmari PW, Shemagnoda Y (1979) Haemoglobin Bart's in new-born Tazanians. Acta Haematol (Basel) 61:114–119

    Google Scholar 

  • Qudart JL, Diadhiou F, Sarrat H, Satge P (1968) L'hémoglobine du nouveau-né Africain. Ann Pediatr (Paris) 50:3073–3081

    Google Scholar 

  • Pembrey ME, Weatherall DJ, Clegg JB, Bunch C, Perrine RP (1975) Haemoglobin Bart's in suadi Arabia. Br J Haematol 29:221–230

    Google Scholar 

  • Piliszek TS (1979) Hb Bart's and its significance in the South African Negro. Acta Haematol (Basel) 61:33–38

    Google Scholar 

  • Ricco G, Mazza U, Turi RM, Pich PG, Camaschella C, Saglio G, Bernini LF (1976) Significance of a new type of human foetal haemoglobin carrying a replacement isoleucine→threonine at position 75 (E 19) of the γ chain. Hum Genet 32:305–313

    Google Scholar 

  • Schroeder WA (1980) Discussion and comments. Hemoglobin 4:483–486

    Google Scholar 

  • Schroeder WA, Huisman THJ, Efremou GD, Roger Shelton J, Shelton JB, Phillips R, Reese A, Gravely M, Harrison JM, Lam H (1979) Further studies of the frequency and significance of the Tγ chain of human fetal hemoglobin. J Clin Invest 63:268–275

    Google Scholar 

  • Sicard D, Lieurzou Y, Lapoumeroulie C, Labie D (1979) High genetic polymorphism of hemoglobin disorders in Laos. Hum Genet 50:327–336

    Google Scholar 

  • van Baelen H, Vandepitte J, Eeckels R (1969) Observations on sickle-cell anaemia and haemoglobin Bart's in Congolese neonates. Ann Soc Belg Med Trop 49:157–164

    Google Scholar 

  • Vedcick TS, Wheeler SA, Koenig HM (1980) Switching of the nonallelic forms of fetal hemoglobin during late gestation. Blood 56: 732–736

    Google Scholar 

  • Weatherall DJ (1976) CIBA foundation Symposium 37: congenital disorders of erythropoiesis. Elsevier/Excerpta Medica/North-Holland, Amsterdam

    Google Scholar 

  • Weatherall DJ, Clegg JB (1981) The thalassemia syndromes, 3rd edn. Blackwell, Oxford

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Office de la Recherche Scientifique et Technique Outre-Mer (ORSTOM), B.P. 181, Brazzaville, P.R. Congo

    M. Lallemant & P. Carnevale

  2. Unité de Recherche en Génétique Moléculaire du Globule Rouge, INSERM U.91, Hôpital Henri Mondor, F-94010, Créteil, France

    F. Galacteros, V. Boukila & J. Rosa

  3. Unité de Recherches de Génétique Epidémiologique, INSERM U.155, Château de Longchamp, Bois de Bolougne, F-75016, Paris, France

    S. Lallemant-Lecoeur & J. Feingold

  4. ORSTOM, F-93140, Bondy, France

    J. Mouchet

Authors
  1. M. Lallemant
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. F. Galacteros
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S. Lallemant-Lecoeur
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. Feingold
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. P. Carnevale
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. V. Boukila
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. J. Mouchet
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. J. Rosa
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lallemant, M., Galacteros, F., Lallemant-Lecoeur, S. et al. Hemoglobin abnormalities. Hum Genet 74, 54–58 (1986). https://doi.org/10.1007/BF00278785

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278785

Keywords

Search

Navigation