Four adult hemoglobin types in one mulatto family

Araújo, João Targino de; Bodemeier, Liliam; Schmidt, Benjamin; Affonso, Rita de Cassia

doi:10.1590/S0036-46651996000300007

Abstracts

The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus) presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha2G-philabeta2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha268 Asn->Lys beta2 and Hb C showed alpha2beta26 Glu->Lys.

Hb Gphiladelphia

A família em estudo mostrou a presença de quatro diferentes tipos de hemoglobinas. O membro da família que deu origem ao estudo (propositus) foi identificado como Hb C e o híbrido com Hb CG-phila. O propositus tem três filhos todos portadores de Hb AC; nenhum membro da família apresentou sintomas clínicos. A pesquisa da hemoglobina resultou da existência de hemácias em alvo, no pré-operatório de varizes de membros inferiores. O híbrido Hb CG-phila é constituído por dois pares de genes, mas cada um com expressão inidividual, determinando a síntese e o tipo particular das subunidades. O híbrido Hb CG-phila é formado pela velocidade de combinação das subunidades alfa2G-philabeta2C assim sendo a proporção do híbrido Hb CG-phila é menor do que a Hb G-phila e Hb C. A identificação e caracterização molecular da Hb G-phila mostrou a posição alfa268 Asn->Lys beta2 a Hb C alfa2beta26 Glu->Lys.

HEMATOLOGY

Four adult hemoglobin types in one mulatto family

Quatro tipos de hemoglobina em uma família adulta de mulatos

João Targino de Araújo^I,II; Liliam Bodemeier^II; Benjamin Schmidt^III; Rita de Cassia Affonso^III

^IHematology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil

^IITropical Hematology Laboratory, Instituto de Medicina Tropical de São Paulo, Universidade de São Paulo, São Paulo, SP, Brasil

^IIILaboratório Bio-Ciencia Lavoisier, São Paulo, SP, Brasil

^{Correspondence to} Correspondence to: Prof. Dr. João Targino de Araújo Instituto de Medicina Tropical dc São Paulo Av. Dr. Enéas de Carvalho Aguiar 470 05403-000 São Paulo, SP, Brasil

SUMMARY

The studied family showed the presence of four different types of hemoglobin.

The family member who gave rise to this study (=propositus) presented Hb C and the hybrid Hb CG-phila.

The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms.

The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping.

The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits.

The hybrid Hb CG-phila is formed by the combination velocity of the subunits a₂^G-phila b₂; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C.

The identification and molecular characterization of Hb G-phila showed the position a₂^{68 Asn®Lys}b₂ and Hb C showed a₂ b₂^{6 Glu®Lys}.

Keywords: Hb Gphiladelphia.

RESUMO

A família em estudo mostrou a presença de quatro diferentes tipos de hemoglobinas.

O membro da família que deu origem ao estudo (propositus) foi identificado como Hb C e o híbrido com Hb CG-phila.

O propositus tem três filhos todos portadores de Hb AC; nenhum membro da família apresentou sintomas clínicos.

A pesquisa da hemoglobina resultou da existência de hemácias em alvo, no pré-operatório de varizes de membros inferiores. O híbrido Hb CG-phila é constituído por dois pares de genes, mas cada um com expressão inidividual, determinando a síntese e o tipo particular das subunidades.

O híbrido Hb CG-phila é formado pela velocidade de combinação das subunidades a₂^G-phila b₂^C assim sendo a proporção do híbrido Hb CG-phila é menor do que a Hb G-phila e Hb C.

A identificação e caracterização molecular da Hb G-phila mostrou a posição a₂^{68 Asn®Lys}b₂ a Hb C a₂ b₂^{6 Glu®Lys}.

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

ACKNOWLEDGMENTS

We thank Prof. M.A. Zago, Dr. W.A. da Silva, for the aminoacid analyses from the Hematology Laboratory, Hospital das Clínicas de Riberão Preto da Universidade de São Paulo.

We thank Drª N.S.L. Grosso for the genetics analyses, from Associação de Pais e Amigos dos Excepcionais de S. Paulo (APAE).

Recebido para publicação em 18/01/1996

Aceito para publicação em 19/04/1996

1. ARAÚJO, J.T. - Hemoglobinas anormais em Săo Paulo. Métodos de estudo. Incidęncia. J. bras. Med., 9: 1264-1282, 1965.
2. ATWATER, J.; SCHWARTZ, I.R. & TOCANTIS, I.M. - A variety of human hemoglobin with 4 distinct eletrophoresis components. Blood, 15: 901-908, 1960.
3. BAGLIONI, C. & INGRAM, V.M. - Four adult haemoglobin types in one person. Nature, 11: 465-467, 1961.
4. BAGLIONI, C. & INGRAM, V.M. - Abnormal human haemoglobin. Chemical investigation of haemoglobins A, G, C, X from one individual. Biochim. biophys. Acta. (Amst.), 48: 253-265, 1961.
5. BUNN, H.F. & FORGET, B.G. - Hemoglobin: molecular, genetic and clinical aspects. In: BUNN, H.F. & FORGET, B.C. Hematology. Philadelphia, W.B. Saunders, 1986. p. 321-359.
6. CLEGG, J.B.; NAUGHTON, M.A. & WEATHERALL, D.J. - Abnormal human haemoglobins: separation and characterization of the a and b chain by chromatography, and the determination of two new variant, Hb Chesapeak and Hb J. J. molec.Biol., 19: 91-108, 1966.
7. GARDINER, M.B.; CARVER, J.; ABRAHAM, B.L.; WILSON, J.B. & HUISMAN, T.H.J. - Further studies on the quantitation of the hemoglobins A, S, C, and I in newborn babies with different hemoglobinopathies using high pressure liquid chromatography. Hemoglobin, 6: 1-13, 1982.
8. GONZÁLEZ REDONDO, J.M. & DE PABLOS, J.M. - Asociación de alfa talasemia y Hb G_philadelphia en una familia espańola. Sangre, 33: 224-228, 1988.
9. INTERNATIONAL COMMITTEE FOR STANDARDIZATION IN HEMATOLOGY (ICSH) - Simple electrophoretic system for presumptive identification of abnormal hemoglobin. Blood, 52: 1058-1064, 1978.
10. ITANO, H.A. & ROBINSON, E. - Formation of Normal and doubly abnormal haemoglobin by recombination of haemoglobin I with S and C. Nature, 27: 1799-1800, 1959.
11. LEHMANN, H.F.S. & KYNOCH, P.A.M. - Human haemoglobin variants and their characteristics. In: LEHMANN, H.F.S. & KYNOCH, P.A.M. Hematology. Philadelphia, W.B. Saunders, 1976. p. 63-65.
12. MOLCHANOVA, T.P.; POBEDIMSKAYA, D.D.; YE, Z. & HUISMAN, T.H.J. - Two different mutation in codon 68 are observed in Hb G_philadelphia heterozygotes. Amer. J. Hemat., 45: 345-346, 1994.
13. RARPER, A.B.; GAMMACK, D.B.; HUEHNS, E.R. & SHOOTER, E.M. - Four haemoglobin in one individual. Brit, med. J., 29: 1257-1261, 1960.
14. THOMPSON, J.S. & THOMPSON, M.W. - Genetics in medicine. In: THOMPSON, J.S. & THOMPSON, M.W. Genetics. Philadelphia, W.B. Saunders, 1976. p. 05-09.

Correspondence to:

Prof. Dr. João Targino de Araújo

Instituto de Medicina Tropical dc São Paulo

Av. Dr. Enéas de Carvalho Aguiar 470

05403-000 São Paulo, SP, Brasil

Publication Dates

Publication in this collection
22 Sept 2006
Date of issue
June 1996

History

Accepted
19 Apr 1996
Received
18 Jan 1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. ARAÚJO, J.T. - Hemoglobinas anormais em Săo Paulo. Métodos de estudo. Incidęncia. J. bras. Med., 9: 1264-1282, 1965.

[2] 2. ATWATER, J.; SCHWARTZ, I.R. & TOCANTIS, I.M. - A variety of human hemoglobin with 4 distinct eletrophoresis components. Blood, 15: 901-908, 1960.

[3] 3. BAGLIONI, C. & INGRAM, V.M. - Four adult haemoglobin types in one person. Nature, 11: 465-467, 1961.

[4] 4. BAGLIONI, C. & INGRAM, V.M. - Abnormal human haemoglobin. Chemical investigation of haemoglobins A, G, C, X from one individual. Biochim. biophys. Acta. (Amst.), 48: 253-265, 1961.

[5] 5. BUNN, H.F. & FORGET, B.G. - Hemoglobin: molecular, genetic and clinical aspects. In: BUNN, H.F. & FORGET, B.C. Hematology. Philadelphia, W.B. Saunders, 1986. p. 321-359.

[6] 6. CLEGG, J.B.; NAUGHTON, M.A. & WEATHERALL, D.J. - Abnormal human haemoglobins: separation and characterization of the a and b chain by chromatography, and the determination of two new variant, Hb Chesapeak and Hb J. J. molec.Biol., 19: 91-108, 1966.

[7] 7. GARDINER, M.B.; CARVER, J.; ABRAHAM, B.L.; WILSON, J.B. & HUISMAN, T.H.J. - Further studies on the quantitation of the hemoglobins A, S, C, and I in newborn babies with different hemoglobinopathies using high pressure liquid chromatography. Hemoglobin, 6: 1-13, 1982.

[8] 8. GONZÁLEZ REDONDO, J.M. & DE PABLOS, J.M. - Asociación de alfa talasemia y Hb G_philadelphia en una familia espańola. Sangre, 33: 224-228, 1988.

[9] 9. INTERNATIONAL COMMITTEE FOR STANDARDIZATION IN HEMATOLOGY (ICSH) - Simple electrophoretic system for presumptive identification of abnormal hemoglobin. Blood, 52: 1058-1064, 1978.

[10] 10. ITANO, H.A. & ROBINSON, E. - Formation of Normal and doubly abnormal haemoglobin by recombination of haemoglobin I with S and C. Nature, 27: 1799-1800, 1959.

[11] 11. LEHMANN, H.F.S. & KYNOCH, P.A.M. - Human haemoglobin variants and their characteristics. In: LEHMANN, H.F.S. & KYNOCH, P.A.M. Hematology. Philadelphia, W.B. Saunders, 1976. p. 63-65.

[12] 12. MOLCHANOVA, T.P.; POBEDIMSKAYA, D.D.; YE, Z. & HUISMAN, T.H.J. - Two different mutation in codon 68 are observed in Hb G_philadelphia heterozygotes. Amer. J. Hemat., 45: 345-346, 1994.

[13] 13. RARPER, A.B.; GAMMACK, D.B.; HUEHNS, E.R. & SHOOTER, E.M. - Four haemoglobin in one individual. Brit, med. J., 29: 1257-1261, 1960.

[14] 14. THOMPSON, J.S. & THOMPSON, M.W. - Genetics in medicine. In: THOMPSON, J.S. & THOMPSON, M.W. Genetics. Philadelphia, W.B. Saunders, 1976. p. 05-09.