Molecular and hematological profiles of hemoglobin EE disease with different forms of alpha-thalassemia.
We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various forms of alpha-thalassemia in Thai individuals. Altogether, 131 unrelated adult subjects with Hb EE at routine Hb analysis were studied. Forty-two cases were found to carry alpha-thalassemia with ten different genotypes. These included 21 cases with alpha(+)-thalassemia heterozygote (-alpha(3.7)/alphaalpha), one case with alpha(+)-thalassemia heterozygote (-alpha(4.2)/alphaalpha), six cases with Hb Constant Spring heterozygote (alpha(CS)alpha/alphaalpha), four cases with homozygous alpha(+)-thalassemia (-alpha(3.7)/-alpha(3.7)), one case with homozygous alpha(+)-thalassemia (-alpha(4.2)/-alpha(4.2)), two cases with compound alpha(+)-thalassemia/Hb Constant Spring (-alpha(3.7)/alpha(CS)alpha), one case with compound alpha(+)-thalassemia/Hb Paksé (-alpha(3.7)/alpha(PS)alpha), four cases with alpha(0)-thalassemia heterozygote (--(SEA)/alphaalpha), and, unexpectedly, two cases with compound alpha(0)-thalassemia/alpha(+)-thalassemia [(--(SEA)/-alpha(3.7)) and (--(SEA)/-alpha(4.2))]. The hematological expression of these Hb E homozygotes with various forms of alpha-thalassemia was presented comparatively with those of the 89 cases of pure Hb E homozygotes. Overlapping levels of Hb E, Hb F, and other hematological parameters were observed which did not predict clinical severity, indicating a need for alpha-globin gene analysis for accurate diagnosis and improved genetic counseling.
Fucharoen
Goonnapa
G
Centre for Research & Development of Medical Diagnostic, Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, 40002, Thailand.
Trithipsombat
Jaruwan
J
Sirithawee
Suparerk
S
Yamsri
Supawadee
S
Changtrakul
Yossombat
Y
Sanchaisuriya
Kanokwan
K
Fucharoen
Supan
S
D014644:Genetic Variation; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015995:Prevalence; D013785:Thailand / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D006446:Hemoglobin E