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Published on: July 9, 2015
Microcytic anaemia and haemoglobinopathy in Cape Town children
Insights
Microcytic anemia in children is often linked to beta-thalassemia gene or abnormal hemoglobin, particularly in the Coloured population. This study investigated the frequency of these conditions in pediatric patients with low mean corpuscular volume (MCV).
Area of Science:
- Hematology
- Pediatric Medicine
- Genetics
Background:
- Microcytosis and hypochromia are common in children with thalassemia and iron deficiency anemia.
- A significant number of children present with microcytic anemia or isolated microcytosis at Red Cross War Memorial Children's Hospital.
Purpose of the Study:
- To determine the frequency of beta-thalassemia gene and abnormal hemoglobin in pediatric patients with low mean corpuscular volume (MCV).
- To investigate the association between low MCV and specific hemoglobinopathies in a pediatric cohort.
Main Methods:
- Retrospective analysis of 730 pediatric patients with MCV of 60 fl or less.
- Screening for beta-thalassemia gene and abnormal hemoglobin variants.
Main Results:
- 46 patients (6.4%) carried the beta-thalassemia gene.
- 20 children (2.7%) had abnormal hemoglobin, most commonly hemoglobin E.
- Thalassemia prevalence was highest in Coloured patients; abnormal hemoglobins were exclusively found in this group.
Conclusions:
- Low MCV in children warrants investigation for beta-thalassemia and abnormal hemoglobins.
- The findings highlight the importance of genetic screening for hemoglobinopathies in specific ethnic groups, particularly the Coloured population.
Abstract:
Patients with thalassemia as well as those with iron deficiency typically have red cell microcytosis and hypochromia. In view of the large number of children with microcytic anaemia or an isolated microcytosis seen at the Red Cross War Memorial Children's Hospital, the frequency with which a low red cell mean corpuscular volume (MCV) was associated with the presence of thalassaemia or with an abnormal haemoglobin was investigated. Of 730 patients with an MCV of 60 fl or less, 46 (6.4%) were found to carry the beta-thalassaemia gene and 20 children (2.7 %) had an abnormal haemoglobin, most commonly haemoglobin E. The prevalence of thalassaemia was greatest among Coloured patients and abnormal haemoglobins were found exclusively in this group of children. The implications of these findings are discussed.
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