Cytogenetic profile of aplastic anaemia in Indian children

Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
The Indian Journal of Medical Research (Impact Factor: 1.4). 03/2013; 137(3):502-6.
Source: PubMed


Background & objectives:
Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India.

Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN).

Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups.

Interpretation & conclusions:
Five (11.9%) patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

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  • The Indian Journal of Medical Research 03/2013; 137(3):445-6. · 1.40 Impact Factor
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    ABSTRACT: Aplastic anemia (AA) is a blood dyscrasia characterized by hypocelluar bone marrow and peripheral blood pancytopenia. Symptomatology depends on the severity of pancytopenia. Patients with AA are susceptible to infection because of agranulocytosis. Hemorrhage caused by thrombocytopenia can be fetal to these patients. Therefore dental procedure potentially can cause serious complications and should be applied with caution. A 6-year-old boy with moderate aplastic anemia was referred to treat dental caries. General dental procedure including resin filling, preformed crown, pulpectomy and extraction was performed under sedation. Combination of modalities such as platelet transfusion, oral hygiene instruction, and dental prophylaxis was also implemented. In this report, the dental and medical management of a patient with AA was presented. Interdisciplinary care should be administered to patients with AA.
    12/2013; 9(2). DOI:10.12655/KADH.2013.9.2.98