Advanced search
Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 5-6
Submit an article Journal homepage
178
Views
0
CrossRef citations to date
0
Altmetric
Short Communication

Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications

Aikaterini ZiogaChild Health Department, Faculty of Medicine, University of Ioannina, Ioannina, Greece;
,
Eleni ThanopoulouGenetics and IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Ioannina, Ioannina, Greece
,
Elissavet HatziGenetics and IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Ioannina, Ioannina, Greece
,
Nikolaos ChaliasosChild Health Department, Faculty of Medicine, University of Ioannina, Ioannina, Greece;
,
Ioannis GeorgiouGenetics and IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Ioannina, Ioannina, Greece
&
Alexandros MakisChild Health Department, Faculty of Medicine, University of Ioannina, Ioannina, Greece; Correspondence[email protected]
Pages 336-338 | Received 11 Nov 2018, Accepted 29 Nov 2018, Published online: 09 Jan 2019

References

  • Voskaridou E, Kattamis A, Fragodimitri C, et al. National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality. Ann Hematol. 2018 Sep 8. doi: 10.1007/s00277-018-3493-4. [Epub ahead of print].
  • HbVar: a database of human hemoglobin variants and thalassemias. Accessed November 11 2018. (http://globin.bx.psu.edu).
  • Theodoridou S, Alemayechou M, Perperidou P, et al. Compound heterozygosity for Hb D-Punjab/β-thalassemia and blood donation: case report. Turk J Haematol. 2009;26(2):100–101.
  • Tsistrakis GA, Scampardonis GJ, Clonizakis JP, et al. Haemoglobin D and D thalassaemia. A family report, comprising 18 members. Acta Haematol. 1975;54(3):172–179.
  • Torres Lde S, Okumura JV, Silva DG, Bonini-Domingos CR. et al. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2):120–126.
  • Wahed A, Dasgupta A, Authors. Hemoglobinopathies and thalassemias. Hematology and Coagulation: A Comprehensive Review for Board Preparation, Certification and Clinical Practice. Amsterdam (The Netherlands): Elsevier. 2015:55–80.
  • Worthington S, Lehmann H. The first observation of Hb D Punjab β0 thalassaemia in an English family with 22 cases of unsuspected β0 thalassaemia minor among its members. J Med Genet. 1985;22(5):377–381.
  • Pandey S, Mishra RM, Pandey S, et al. Molecular characterization of Hemoglobin D Punjab traits and clinical-hematological profile of the patients. Sao Paulo Med J. 2012;130(4):248–251.
  • Srinivas U, Pati HP, Saxena R. Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography. Hematology. 2010;15(3):178–181.
  • Thalagahage KH, Jayaweera J, Kumbukgolla W, et al. Hb S/D-Punjab Disease: report of 3 cases from Sri Lanka. Indian J Hematol Blood Transfus. 2018;34(2):350–352.
  • Torres LS, Okumura JV, Belini JE, et al. Phenotypic diversity of sickle cell disease in patients with a double heterozygosity for Hb S and Hb D-Punjab. Hemoglobin. 2016;40(5):356–358.
  • Adachi K, Kim J, Ballas S, et al. Facilitation of Hb S polymerization by the substitution of Glu for Gln at β121. J Biol Chem. 1988;263(12):5607–5610.
  • Owaidah TM, Al-Saleh MM, Al-Hellani AM. Hemoglobin D/beta-thalassemia and β-thalassemia major in a Saudi family. Saudi Med J. 2005;26(4):674–677.
  • Fucharoen S, Changtrakun Y, Surapot S, et al. Molecular characterization of Hb D-Punjab [β121(GH4)Glu→Gln] in Thailand. Hemoglobin. 2002;26(3):261–269.
  • Ghosh A, Basak J, Mukhopadhyay A. Coexistence of rare variant HbD Punjab [α2β2(121(Glu→Gln))] and α 3.7 kb deletion in a young boy of Hindu family in West Bengal, India. Cell Mol Biol Lett. 2015;20(5):736–742.
  • Pandey S, Mishra RM, Pandey S, et al. Homozygous Hemoglobin D with α thalassemia: case report. Open J Hematol. 2011;2:3.
  • Pandey S, Ranjan R, Mishra RM, et al. Interaction of - α 3.7, β thalassemia mutation IVS 1-5 and HbD Punjab in a family: a case report. Indian J Clin Biochem. 2012;27(3):314–317.
  • Alotaibi ST, Ahmed MA. Hemoglobin D trait with α thalassemia in a Saudi family. Ann Saudi Med. 2000;20(3-4):251–252.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.