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Abstract

Hematological Characterization of Compound Heterozygous Hemoglobin Hope/E Patients with and without α-Thalassemia-1 SEA Type Deletion by Sakorn Pornprasert

Background: There is no report of hematological data in patients with co-inheri-tance of compound heterozygous hemoglobin (Hb) Hope/E and á-thalassemia-1 Southeast Asian (SEA) type deletion.
Methods: Hematological parameters were studied in 3 Thai patients with compound he-terozygous Hb Hope/E and 1 of them had á-thalassemia-1 SEA type deletion. Red cell counts, hemoglobin, hematocrit, and red cell indices were measured using an auto-mated blood counter. The molecular analysis of Hb Hope was performed using the am-plification refractory mutation system (ARMS)-PCR.
Results: The lowest levels of hemoglobin, hematocrit, MCV, MCH, and HbA2/E and the highest level of RDW were found in a patient who had co-inheritance of compound heterozygous Hb Hope/E and á-thalassemia-1 SEA type deletion.
Conclusions: Co-inheritance of compound heterozygous Hb Hope/E and á-thalassemia-1 SEA type deletion caused prominent changes in hematological features. Thus, knowl-edge and understanding of these multiple gene interactions will assist in diag-nosis, management, and counseling in these patients.

DOI: 10.7754/Clin.Lab.2013.130139