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α‐Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis
Authors:F D Couto  A B L De Albuquerque  E V Adorno  J P De Moura Neto  L De Freitas Abbehusen  J L B De Oliveira  M G Dos Reis  M De Souza Gonalves
Institution:F. D. Couto,A. B. L. De Albuquerque,E. V. Adorno,J. P. De Moura Neto,L. De Freitas Abbehusen,J. L. B. De Oliveira,M. G. Dos Reis,M. De Souza Gonçalves
Abstract:α‐Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. α‐thalassemia‐23.7kb (α‐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 α‐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 α genes and those with α‐Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal α genes and α‐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 α 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 α‐Thal23.7kb genotype. The AC α‐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.
Keywords:Hemoglobinopathies  hemoglobin C  pregnancy  thalassemia  hematologic parameters
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