α-Thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with ß-thalassemia, iron deficiency anemia.
Pediatr Hematol Oncol
; 29(3): 241-6, 2012 Apr.
Article
en En
| MEDLINE
| ID: mdl-22475300
ABSTRACT
The majority of the anemias during childhood are hypochromic and microcytic. The aim of the present study was to determine the status of α-thalassemia mutations and its association with other etiologies, such as iron deficiency anemia (IDA) and ß-thalassemia trait, that are frequently seen hypochromic microcytic anemias in children. Children with hypochromic microcytic anemias were included in the study. Serum iron (SI), total iron-binding capacity (TIBC), ferritin levels, and hemoglobin electrophoresis with high-performance liquid chromatography (HPLC) method were analyzed. Reverse hybridization of biotinylated polymerase chain reaction (PCR) product method was used for detection of α-globin gene mutations. Of the 46 patients involved in the study, 54.3% (n = 25) were boys, and 45.7% (n = 21) were girls. Iron deficiency anemia and ß-thalassemia trait were diagnosed in 67.4% (n = 31) and 19.5% (n = 9), respectively. In 17.4% there were α-thalassemia mutations (in 10.9% 3.7 single-gene heterozygote mutation, in 4.3% 20.5-kb double-gene deletion mutation, and in 2.2% α-2 poly-A-1 heterozygote mutation was detected). In 2 patients (4.3%) no etiology was determined. In 2 patients (4.3%) association between iron deficiency anemia and α-thalassemia, in 1 patient (2.2%) association between ß and α-thalassemia was detected. In conclusion, α-thalassemia carrier status and its association with other etiologies are frequently seen in Manisa. So, α-thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemias, especially in cases without iron deficiency (ID) and ß-thalassemia carrier state.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Talasemia alfa
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Anemia Ferropénica
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Anemia Hipocrómica
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Mutación
Tipo de estudio:
Diagnostic_studies
/
Incidence_studies
/
Prognostic_studies
Límite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Turquía