Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis

Submitted by Ana Maria Fiscina Sampaio ([email protected]) on 2012-07-17T21:13:06Z No. of bitstreams: 1 Couto FD a-thalassemia 2,3.7 kb deletion....pdf: 180756 bytes, checksum: 6cc9ee5e35c50e2b235bb71f10a968d5 (MD5)Made available in DSpace on 2012-07-17T21:13:06Z (GMT). No. of bitstreams: 1 Couto FD a-thalassemia 2,3.7 kb deletion....pdf: 180756 bytes, checksum: 6cc9ee5e35c50e2b235bb71f10a968d5 (MD5) Previous issue date: 2003Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Maternidade Pública Tsylla Balbino. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Universidade Federal da Bahia. Salvador, BA, Brasil.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

Clinical & Laboratory Haematology

Texto completo: acesso restrito. p. 29–34α-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

Clinical and Laboratory Haematology

Texto Completo: acesso restrito. p. 29–34a-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. a-thalassemia- 23.7kb (a-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 a-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 a genes and those with a-Thal23.7kb (P ¼ 0.031). Statistical analysis of AC group patients with normal a genes and a-Thal23.7kb carriers showed differences in MCV (P ¼ 0.001); MCH (P ¼ 0.003) and Hb C concentrations (P ¼ 0.011). Analysis of AA and AC group patients with normal a genes showed differences in RBC (P ¼ 0.033), Hb concentration (P ¼ 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 a-Thal23.7kb genotype. The AC a-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