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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 4
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Original Article

Sickle Cell/β0-Thalassemia Associated With the 1393 bp Deletion Can be Associated With a Severe Phenotype

Yvonne DanielBlood Sciences, Guy’s and St. Thomas’ Pathology, St. Thomas’ Hospital, London, UK
,
Kim HillBlood Sciences, Guy’s and St. Thomas’ Pathology, St. Thomas’ Hospital, London, UK
,
Baba InusaDepartment of Paediatrics, Evelina Hospital, Guy’s and St. Thomas’ National Health Service Foundation Trust, London, UK
,
Swee Lay TheinKing’s College London School of Medicine, Division of Gene and Cell Based Therapy, King’s Denmark Hill Campus, London, UK;King’s College Hospital National Health Service Foundation Trust, Department of Haematological Medicine, Denmark Hill, London, UK
&
Jo HowardDepartment of Haematology, Guy’s and St. Thomas’ National Health Service Foundation Trust, London, UKCorrespondence[email protected]
Pages 406-410 | Received 02 Mar 2011, Accepted 11 Apr 2011, Published online: 28 Jul 2011

REFERENCES

  • Anand R, Boehm CD, Kazazian HH Jr, Vanin EF. Molecular charecterization of a β0-thalassemia resulting from a 1.4 kilobase deletion. Blood. 1988;72 (2):636–641.
  • Thein SL, Hesketh C, Brown JM, Anstey AV, Weatherall DJ. Molecular charecterization of a high A2 β thalassemia by direct sequencing of single strand enriched amplified genomic DNA. Blood. 1989;73(4):924–930.
  • Faustino P, Reis AB, Feliciano H, Asymptomatic homozygous deletional β0-thalassemia in an African individual. Am J Hematol. 2002;70(3):232–236.
  • Padanilam BJ, Felice AE, Huisman THJ. Partial deletion of the 5′ β-globin gene region causes β0-thalassemia of an American Black family. Blood. 1984;64(4):941–944.
  • Waye JS, Chui DHK, Eng B, Hb S/β0-thalassemia due to the ∼1.4kb deletion is associated with a relatively mild phenotype. Am J Hematol. 1991;38(2):108–112.
  • Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Molec Genet. 2009;18(R2):R216–R223.
  • Mai M, Hoyer JD, McClure RF. Use of multiple displacement amplification to amplify genomic DNA before sequencing of the α and β haemoglobin genes. J Clin Pathol. 2004;57(6):637–640.
  • Sutton M, Bouhassira E, Nagel R. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66–69.

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