I. C. Verma

Regional distribution of β-thalassemia mutations in India

Abstract We have characterized the mutations in 1050 carriers of the β-thalassemia gene and analyzed their regional distribution in India. The majority of β-thalassemia carriers were migrants from Pakistan and their pattern of mutations differed from the rest. The frequency of the 619-bp deletion was 33.3% among the migrants from Pakistan, 8–17% in the northern states, and less than 5% in the other states. Among non-migrant subjects, the predominant mutation was IVS-I-5 (G→C), varying from 85% in the southern states and 66–70% in the eastern states to 47–60% in the northern states. The mutation IVS-I-1 (G→T) was observed at high frequency among the migrants from Pakistan (26.2%), but with very low/ zero frequency in the other states. Mutations at codons 8/9 (+G) and codons 41/42 (–CTTT) were distributed in all regions of India with a frequency varying from 3% to 15%. Only eight of 12 published rare mutations were observed in subjects from different parts of India. Mutations of codon 5 (–CT) and codons 47/48 (+ATCT) were found exclusively in migrants from Pakistan, and mutation –88 (C→T) was detected only in subjects from Punjab, Haryana, and Uttar Pradesh. Using the amplification refractory mutation system technique, mutations were successfully identified in 98.2% of subjects. Overall, 91.8% of the subjects had one of the five commonest mutations [IVS-I-5 (G→C), 34.1%; 619-bp deletion, 21.0%; IVS-I-1 (G→T) 15.8%; codons 8/9 (+G), 12.1%, and codons 41/42 (–CTTT), 8.7%], 5.9% of the subjects had a less common mutation, while 1.8% of the carriers remained uncharacterized. The application of this knowledge has helped to successfully establish a program of genetic counselling and prenatal diagnosis of β-thalassemia in order to reduce the burden of this disease in India.

An outbreak of diarrhea due to citrobacter freundii in a neonatal special care nursery

A nursery epidemic ofCitrobacter freundii infection is reported. Seven neonates were affected of which six had diarrhea and one had septicemia All survived except one who had septicemia. The potential pathogenicity of this organism in newborns is emphasized.

Evaluation of micro erythrocyte sedimentation rate in the diagnosis of neonatal sepsis

A simple, inexpensive method using standard hematocrit capillary tubes and blood obtained from heel prick to determine E.S.R. (micro E.S.R.) in newborns is described. Normal values for 75 neonates were obtained, and the usefulness of micro ESR as an indicator of neonatal septicemia was evaluated.

Meconium staining of amniotic fluid and its association with fetal distress and gestational age.

Analysis of 1,359 liveborn babies was done in respect of gestational age, meconium staining of amniotic fluid and presence of fetal distress. The incidence of meconium-stained amniotic fluid and fetal distress were found to be 7.9 and 13.1 per cent respectively. Only 3.7 per cent of the babies less than 34 weeks’ gestation passed meconium in utero, and in half of them it was a sign of fetal anoxia. Neonatal listeriosis was proved in four term babies. The relationship of meconium staining of amniotic fluid and gestational maturity is discussed.