title: alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis.
abstract: alpha-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. alpha-thalassemia-23.7kb (alpha-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women - 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were alpha-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal alpha genes and those with alpha-Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal alpha genes and alpha-Thal23.7kb carriers showed differences in MCV (P = 0.001); MCH (P = 0.003) and Hb C concentrations (P = 0.011). Analysis of AA and AC group patients with normal alpha genes showed differences in RBC (P = 0.033), Hb concentration (P = 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the alpha-Thal23.7kb genotype. The AC alpha-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns.
authors.affiliation: Centro de Pesquisas Gonçalo Moniz/FIOCRUZ-Pathology and Molecular Biology Laboratory, Bahia, Brazil.
authors.forename: F D
authors.initials: FD
authors.lastname: Couto
authors.forename: A B L
authors.initials: AB
authors.lastname: De Albuquerque
authors.forename: E V
authors.initials: EV
authors.lastname: Adorno
authors.forename: J P
authors.initials: JP
authors.lastname: De Moura Neto
authors.forename: L
authors.initials: L
authors.lastname: De Freitas Abbehusen
authors.forename: J L B
authors.initials: JL
authors.lastname: De Oliveira
authors.forename: M G
authors.initials: MG
authors.lastname: Dos Reis
authors.forename: M
authors.initials: M
authors.lastname: De Souza Gonçalves
mesh_terms: D001938:Brazil / Q000208:ethnology; D016022:Case-Control Studies; D005260:Female; D005820:Genetic Testing; D006403:Hematologic Tests; D006441:Hemoglobin A; D006444:Hemoglobin C; D006579:Heterozygote; D006801:Humans; D011247:Pregnancy; D044469:Racial Groups; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006444:Hemoglobin C; D006441:Hemoglobin A