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Case Report

A Rare Case of Coinheritance of Hemoglobin H Disease and Sickle Cell Trait Combined with Severe Iron Deficiency

1
Hematology, University Hospital Basel, Petersgraben 4, 4031 Basel, Switzerland
2
IMD Institute for Medical & Molecular Diagnostic Ltd., 8047 Zurich, Switzerland
3
Department of Human and Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2011, 3(3), e30; https://doi.org/10.4081/hr.2011.e30
Received: 15 September 2011 / Revised: 10 November 2011 / Accepted: 22 November 2011 / Published: 6 December 2011
We present a case of a 40-year-old female from Turkey, who was referred to our outpatient clinic for an undetermined thalassemia and sickle cell trait. At first consultation hemoglobin was decreased (71 g/L) with microcytosis (MCV 55.1 fL), and hypochromia (MCHC 239 g/L). The patient had severe iron deficiency. Brilliant cresyl blue staining showed >50% of the erythrocytes with typical Hemoglobin H (HbH) inclusions. High-performance liquid chromatography (HPLC) revealed normal levels of HbA2 and Hemoglobin F (HbF), and additionally a hemoglobin S (19%). Molecular diagnostics revealed the mutations α2 IVS-I donor site −5nt and a --MED II deletion in the alpha gene complex and confirmed the heterozygote mutation of the beta-gene at codon 6 (HBB:c.20A>T; HbS). In conclusion, we present an extremely rare combination of HbH disease and sickle cell trait. This combination may explain the mild form of the HbH disease, with moderate anemia, splenomegaly but iron deficiency, rather than iron overload, as usually observed in HbH disease.
Keywords: alpha-thalassemia; HbH disease; iron deficiency; sickle cell trait alpha-thalassemia; HbH disease; iron deficiency; sickle cell trait
MDPI and ACS Style

Medinger, M.; Saller, E.; Harteveld, C.L.; Lehmann, T.; Graf, L.; Rovo, A.; Buser, A.; Passweg, J.; Tichelli, A. A Rare Case of Coinheritance of Hemoglobin H Disease and Sickle Cell Trait Combined with Severe Iron Deficiency. Hematol. Rep. 2011, 3, e30. https://doi.org/10.4081/hr.2011.e30

AMA Style

Medinger M, Saller E, Harteveld CL, Lehmann T, Graf L, Rovo A, Buser A, Passweg J, Tichelli A. A Rare Case of Coinheritance of Hemoglobin H Disease and Sickle Cell Trait Combined with Severe Iron Deficiency. Hematology Reports. 2011; 3(3):e30. https://doi.org/10.4081/hr.2011.e30

Chicago/Turabian Style

Medinger, Michael, Elisabeth Saller, Cornelis L. Harteveld, Thomas Lehmann, Lukas Graf, Alicia Rovo, Andreas Buser, Jakob Passweg, and André Tichelli. 2011. "A Rare Case of Coinheritance of Hemoglobin H Disease and Sickle Cell Trait Combined with Severe Iron Deficiency" Hematology Reports 3, no. 3: e30. https://doi.org/10.4081/hr.2011.e30

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