Hemoglobin H Disease: A rare case report and its diagnostic challenge.
Keywords:
Pregnancy, HbH disease, Hemoglobin, Thalassemia
Abstract
Thalassemia the most common monogenic gene disorder in the world is especially frequent in Mediterranean countries. Hemoglobin H (Hb H) disease is a special variant of α-thalassemia presenting as microcytic hypochromic anemia. The clinical phenotypes of most individuals remain unnoticed unless there occurs an acute hemolytic crisis and they are most often underdiagnosed or misdiagnosed as iron deficiency anemia. Here we report a case of 34 year old pregnant women who presented with pallor and mild splenomegaly. Complete blood count (CBC) showed decrease in Mean Corpuscular Volume (MCV), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC) and increase in Red Cell Distribution Width (RDW) and reticulocyte percent. Peripheral smear showed microcytic hypochromic Red Blood Corpuscles (RBCs) with severe anisopoikilocytosis. Supravital staining of peripheral blood showed Hb H inclusions in RBCs. The increase in reticulocyte percent here is due to mature RBC’s having Hb H inclusions that are misinterpreted as reticulocytes by automated cell counters. Hence, in a background of variable clinical presentation of this disease, we consider this case to highlight the importance of simple peripheral smear examination and supravital staining of peripheral blood in the diagnosis of Hb H disease which are often misdiagnosed as iron deficiency anemia by seeing CBC results. It is also important to emphasize the importance of early diagnosis of these cases to facilitate implementation of proper preventive health care measure, ensure fetal well being and prompt treatment of potentially serious hemolytic crisis that can occur during pregnancy.References
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2. David H. K. Chui, Suthat Fucharoen, and Vivian Chan. Hb H disease: not necessarily a benign disorder blood, 1 february 2003 _ volume 101, number 3.
3. Munchi N, De Silva V, While IM. The frequencies of Hb S α and β-thalassemia in Saudi Arabia Preliminary national values. Saudi Med J 1989; 10:62–65.
4. Mirabile E, Samperi P, Di Cataldo A, Poli A, La Spina M, Schilirb G. Phenotype-genotype correlation in Sicilian patients with Hb H. Eur J Haematol. 2000; 65:306-309.
5. Fucharoen S, Winichagoon P, Pootrakul P, et al. Differences between two types of Hb H disease, alpha-thalassemia 1/alpha-thalassemia 2 and alpha-thalassemia 1/Hb constant spring. Birth Defects Orig Artic Ser 1987;23: 309–315.
6. Cornelis L Harteveld1 and Douglas R Higgs*2 α- thalassemia Harteveld and Higgs Orphanet Journal of Rare Diseases 2010, 5:13.
7. Theera Tongsong, Kasemsri Srisupundit, Suchaya Luewan. Outcomes of pregnancies affected by hemoglobin H disease International Journal of Gynecology and Obstretics 104 (2009) 206-208.
8. Taher A, Isma'eel H, Mehio G, Bignamini D, Kattamis A, Rachmilewitz EA, et al. Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran. ThrombHaemost2006;96(4):488–91.
Published
2015-06-16
Issue
Section
Case Reports
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