Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation

Pediatric Blood & Cancer
Sharon A SinghDavid H K Chui

Abstract

Alpha thalassemia due to nondeletional mutations usually leads to more severe disease than that caused by deletional mutations. Devastating outcomes such as hydrops fetalis can occur with two nondeletional mutations, therefore warranting DNA-based workup for suspected carriers with subtle hematological abnormalities for family counseling purposes. We describe three cases with hemoglobin (Hb) Adana, a nondeletional alpha chain mutation, compounded with an alpha globin gene deletion resulting in thalassemia intermedia. We review the literature, draw genotype-phenotype correlations from published cases of Hb Adana, and propose that this correlation can be used by clinicians to help direct diagnostic studies and urge hematologists to thoroughly workup high-risk patients.

References

Sep 1, 1993·Blood Reviews·D Williamson
Aug 24, 2000·The New England Journal of Medicine·F E ChenV Chan
Oct 24, 2002·Blood·David H K ChuiVivian Chan
Aug 15, 2003·Advances in Experimental Medicine and Biology·Iswari SetianingsihIta M Nainggolan
Dec 13, 2005·Annals of the New York Academy of Sciences·David H K Chui
May 9, 2007·Hemoglobin·Mehmet Akif Cürük
Jul 4, 2007·Haematologica·Valeh HadaviHossein Najmabadi
Feb 12, 2009·Hemoglobin·Nasir A S Al-AllawiHossein Najmabadi
Jul 29, 2009·Journal of Pediatric Hematology/oncology·Asude Alpman DurmazFerda Ozkinay
Dec 17, 2009·Hematology·Suthat Fucharoen, Vip Viprakasit
Feb 12, 2010·Journal of Pediatric Hematology/oncology·Marina EconomouAthanassiou-Metaxa Miranda
May 29, 2010·Orphanet Journal of Rare Diseases·Cornelis L Harteveld, Douglas R Higgs
Jul 21, 2010·Hemoglobin·Ita M NainggolanIswari Setianingsih
Mar 8, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Renzo Galanello, Antonio Cao
May 29, 2012·Blood Reviews·Elliott Vichinsky
May 27, 2014·International Journal of Molecular Sciences·Nur Fatihah Mohd YatimBadrul Hisham Yahaya
Oct 25, 2014·Hemoglobin·Tekin AksuBahattin Tunç
Nov 13, 2014·The New England Journal of Medicine·Frédéric B Piel, David J Weatherall
Apr 1, 2015·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Sevcan Tug BozdoganTomasz Gambin
Aug 20, 2015·Hemoglobin·Reza AlibakhshiSamaneh Shafieenia
Sep 18, 2015·Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology·Zeynep KarakaşFiliz Aydın

❮ Previous
Next ❯

Citations

May 28, 2019·Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research·Xuan LiuXuedong Wu
Jun 27, 2020·Hemoglobin·Reza AlibakhshiLeila Omidniakan
Jul 1, 2020·Orphanet Journal of Rare Diseases·Ibrahim Kalle KwaifaSabariah Md Noor

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.