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The congenital dyserythropoietic anemias (CDA) comprise a group of
rare hereditary disorders of erythropoiesis, characterized by ineffective
erythropoiesis as the predominant mechanism of anemia and by
distinct morphological abnormalities of the majority of the erythroblasts
in the bone marrow. Whereas genetic mutations responsible for this
disorder have been discovered in European populations, there is still
much work to be done in this regard in our part of the world, which
could lead to a better management plan for such patients.
Objective: The objective of this study was to compare the clinical and
laboratory features of CDA patients diagnosed at the Children’s
Hospital, Lahore with the International CDA Registry.
Materials and Methods: It was a prospective case series data was
collected on well-defined proforma over a 12 year period from 2003-15.
Patients diagnosed with CDA on the basis of mild to moderate anemia,
ineffective erythropoies is and morphological abnormalities of
erythroblasts in the bone marrow were included in the study. The
parameters studied included age at presentation, gender, severity,
skeletal anomalies, number of siblings involved, complete blood count,
reticulocyte count, bilirubin levels and bone marrow findings and these
were compared with similar parameters from patients registered with
the International CDA registry. Data analysis was performed using SPSS
v22.
Results: Significant differences exist between the Pakistani kindred
diagnosed with CDA and the international one in terms of age at
presentation, severity, skeletal anomalies, number of siblings involved,
hemoglobin levels, RBC count and indices, bilirubin levels and RBC
morphological features. However, distribution of the types of CDA,
gender and bone marrow findings are almost similar.
Conclusion: The clinical and laboratory features of CDA in our patients
are significantly different, and more severe, from those registered with
the International CDA registry. As the genetic mutations causing this
disease have so far not been mapped in our patients, there could be
the possibility of either a different mutation in our population, or an
entirely different disorder with bone marrow features similar to CDA.
Saima Farhan, Unaiza Qamar, Anum Waseem, Prof. Nisar Ahmed, Asma Saadia, Irem Iqbal. (2016) Congenital Dyserythropoietic Anemia: Comparison of Data at The Children’s Hospital and The Institute of Child Health, Lahore with the International CDA Registry , Pakistan Pediatric Journal, Volume 40, Issue 2.
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