Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome


Cite item

Full Text

Abstract

Thalassemia and qualitative hemoglobinopathy are hereditary disorders of Hb synthesis that lead to change in the Hb conformation or a decrease in the synthesis of structurally normal Hb, and consequently, to erythron pathology. Many variants of Hb are unstable or have altered affinity for oxygen, and, in heterozygous form can be associated with clinical and hematological manifestations (hemolytic anemia, hypochromic microcytic anemia, erythrocytosis). HbD-Punjab [β121 (GH4) Glu → Gln; HBB: C.364G> C] is variant of Hb carrying the amino acid substitution in the 121 position of β-globin chain. In all cases reported so far, patients with HbD-Punjab/β+-thalassemia (IVSI+5 G-C) combination experienced typical thalassemia with hypochromic microcytosis. HbD-Punjab was detected by electrophoresis from 37 to 94% of total Hb. The article describes rare clinical case of the cohabitation of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in a patient with homozygous variant of Gilbert's syndrome observed in AS Loginov Moscow Clinical Scientific Center.

About the authors

A A PETRENKO

Peoples’ Friendship University of Russia (RUDN University)

студент VI курса каф. госпитальной терапии с курсами эндокринологии, гематологии и клинической лабораторной диагностики медицинского института Российского университета дружбы народов (РУДН)

A V PIVNIK

Peoples’ Friendship University of Russia (RUDN University); AS Loginov Moscow Clinical Scientific Center

Email: pivnikav@gmail.com
д.м.н., проф. каф. госпитальной терапии с курсами эндокринологии, гематологии и клинической лабораторной диагностики РУДН, руководитель отдела онкогематологии и вторичных иммунодефицитных заболеваний ГБУЗ «Московский клинический научный центр им. А.С. Логинова ДЗМ»

P P KIM

AS Loginov Moscow Clinical Scientific Center

врач-хирург, н.с. отд-ния хирургии печени и поджелудочной железы МКНЦ

E Yu DEMIDOVA

National Research Center for Hematology

научный сотрудник лаборатории генной инженерии ФГБУ «НМИЦ гематологии» Минздрава России

V L SURIN

National Research Center for Hematology

исполняющий обязанности руководителя лаборатории генной инженерии, старший научный сотрудник ФГБУ «НМИЦ гематологии» Минздрава России

A O ABDULLAEV

National Research Center for Hematology

к.м.н., с.н.с. лаборатории молекулярной гематологии ФГБУ «НМИЦ гематологии» Минздрава России

A B SUDARIKOV

National Research Center for Hematology

д.б.н., зав. лабораторией молекулярной гематологии ФГБУ «НМИЦ гематологии» Минздрава России

N A PETROVA

National Research Center for Hematology

к.б.н., врач клинической лабораторной диагностики ФГБУ «НМИЦ гематологии» Минздрава России

S A MARYINA

National Research Center for Hematology

руководитель группы гуморального иммунитета ФГБУ «НМИЦ гематологии» Минздрава России

References

  1. Giardine B, Borg J, Viennas E et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014; 42:D1063-D1069
  2. Panyasai S, Sakkhachornphop S, Pornprasert S. Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis. Indian J Hematol Blood Transfus. 2018 Jan;34(1):110-114. Epub 2017 Apr 4. PMID: 29398808. PMCID: PMC5786607 [Available on 2019-01-01]. doi: 10.1007/s12288-017-0810-3
  3. Baglioni C. Abnormal human haemoglobins. VII. Chemical studies on haemoglobin D. Biochim Biophys Acta. 1962 May 21;59:437-449. doi.org/10.1016/0006-3002(62)90194-4
  4. Itano H.A. A Third Abnormal Hemoglobin Associated with Hereditary Hemolytic Anemia. Proc Natl Acad Sci USA. 1951 Dec;37(12):775-84. PMID: 16589027 PMCID: PMC1063470
  5. Lidiane de Souza Torres, Jéssika Viviani Okumura, Danilo Grünig Humberto da Silva, and Claudia Regina Bonini-Domingos Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015 Mar-Apr; 37(2):120-126. Published online 2015 Feb 23. doi: 10.1016/j.bjhh.2015.02.007
  6. Das S, Mashon R.S. Coinheritance of Hb D-Punjab and β-thalassemia: Diagnosis and implications in prenatal diagnosis. Hemoglobin. 2015;39:138-40.
  7. Torres Lde S, Okumura J.V, Silva D.G, Bonini-Domingos C.R. Hemoglobin D-Punjab: Origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37:120-6.
  8. Worthington S, Lehmann H. The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. J Med Genet. 1985;22:377-81.
  9. Adekile A, Muah-AlI A, Akar N.A. Does elevated hemoglobin Fmodulate the phenotype in Hb SD-Los Angeles? Acta Haematol. 2010;123(3):135-9.26.
  10. Taghavi Basmanj M, Karimipoor M, Amirian A, Jafarinejad M, Katouzian L, Valaei A, Bayat F, Kordafshari A, Zeinali S. Co - inheritance of hemoglobin D and β - thalassemia traits in three families: clinical relevance. Arch Iran Med. 2011;14(1):61-3.27
  11. Pandey S, Ranjan R, Mishra R.M, Pandey S, Saxena R. Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report. Indian J Clin Biochem. 2012 Jul;27(3):314-7. doi: 10.1007/s12291-012-0189-8. Epub 2012 Mar 24.
  12. Das S, Mashon R.S. Coinheritance of Hb D-Punjab and β - thalassemia: diagnosis and implications in prenatal diagnosis. Hemoglobin. 2015;39(2):138-40. doi: 10.3109/03630269.2015.1004335. Epub 2015 Feb 10.
  13. Belhoul K.M, Bakir M.L, Abdulrahman M. Misdiagnosis of Hb D-Punjab/β - thalassemia is a potential pitfall in hemoglobinopathy screening programs: a case report. Hemoglobin. 2013;37(2):119-23. doi: 10.3109/03630269.2013.769174. Epub 2013 Feb 20.
  14. Taghavi Basmanj M, Karimipoor M, Amirian A, Jafarinejad M, Katouzian L, Valaei A, Bayat F, Kordafshari A, Zeinali S. Co - inheritance of hemoglobin D and β - thalassemia traits in three Iranian families: clinical relevance. Arch Iran Med. 2011 Jan;14(1):61-3. doi: 011141/AIM.0014.
  15. Bouchán-Valencia P, Coeto-Barona G, Rosenfeld-Mann F, Trueba-Gómez R, Baptista-González H, Rivera-Echegoyén M, Rodríguez-Terán G, Martínez-Villegas O. Molecular identification of Hemoglobin D Punjab in cases detected in two families. Rev Med Inst Mex Seguro Soc. 2016 Nov-Dec; 54(6):793-800.

Copyright (c) 2018 Consilium Medicum

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


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies