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Revista do Instituto de Medicina Tropical de São Paulo

On-line version ISSN 1678-9946

Rev. Inst. Med. trop. S. Paulo vol.38 no.3 São Paulo May/June 1996

http://dx.doi.org/10.1590/S0036-46651996000300007 

HEMATOLOGY

 

Four adult hemoglobin types in one mulatto family

 

Quatro tipos de hemoglobina em uma família adulta de mulatos

 

 

João Targino de AraújoI,II; Liliam BodemeierII; Benjamin SchmidtIII; Rita de Cassia AffonsoIII

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

 

 


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 a2G-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 a268 Asn®Lys b2 and Hb C showed a2 b26 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 a2G-phila b2C 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 a268 Asn®Lys b2 a Hb C a2 b26 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).

 

REFERENCES

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

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

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

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.         [ Links ]

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.         [ Links ]

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.         [ Links ]

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.         [ Links ]

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

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

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.         [ Links ]

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.         [ Links ]

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

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.         [ Links ]

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.         [ Links ]

 

 

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

Recebido para publicação em 18/01/1996
Aceito para publicação em 19/04/1996

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