Immunophenotypic and Cytogenetic Characteristics of Pediatric Acute Lymphoblastic Leukemia: A Burden Estimation Study from Eastern India.

BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Immunophenotype (IPT) and cytogenetics are essential for diagnosis, risk stratification, and management for ALL. OBJECTIVES: Evaluating the burden of immunophenotypic and cytogenetic profile of pediatric ALL patients. MATERIALS AND METHODS: A descriptive cross-sectional study was conducted on 100 patients of ALL (1-18 completed years) attending a tertiary-care center in Kolkata, Eastern India. RESULTS: Ninety-six percent of patients had B-cell ALL (94.00% pre-B ALL and 2.00% Pro-B ALL) and 4.0% had T-ALL. 60% B-cell ALL were CD19/CD10 positive, 10% were CD79a positive, 9% were only CD19 positive, and 7% were only CD10 positive. Thirty-three percent of T-ALL were CD3+, whereas 22% were positive each for CD4 and CD7. 51.0% of patients had diploid, 46.0% hyperdiploid, and 3.0% hypodiploid karyotype. Among hyperdiploids, 98% had good prednisolone response and 89% had measurable residual disease (MRD) <0.01. CONCLUSION: The most commonly diagnosed ALL by IPT was pre-B ALL. Among the detectable cytogenetic abnormalities, t(12; 21) ETV6-RUNX1 was the most common. ZNF-384 gene arrangement was also detected in our study. t(12;21) ETV6-RUNX1 had a good treatment response, while t(9;22) BCR-ABL, t(1;19) TCF3-PBX1, iAMP-21, MLL gene rearrangement, and ZNF-384 gene arrangement had poor treatment response in terms of MRD.

Case report of recurrent bleeding in an infant with isolated prolonged prothrombin time due to congenital factor VII deficiency---a riddle solved.

Factor VII deficiency is a rare bleeding disorder showing an autosomal recessive pattern of inheritance. Data from our country on this particular entity is lacking. Especially the specific mutations associated with this disease are not well documented. The disease can have a wide spectrum of presentation from asymptomatic to catastrophic central nervous system or gastrointestinal system bleed. It can often present early in the neonatal period or be detected quite later in life. The genotype and phenotype correlation is also not well understood. Here, we report a case of recurrent bleeding in an infant boy who was otherwise absolutely well. His investigations had revealed isolated prolonged prothrombin time which remained uncorrected despite administration of injection vit K. Specific assay for factor VII level revealed that its value less than 1%. Sequencing of the F7 gene revealed our patient to be homozygous for mutation of promoter consensus sequence of F7 gene (-94C > T).

Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital.

BACKGROUND: In developing world, anemia is a significant cause of mortality and morbidity in children under 5 years of age. Iron deficiency anemia (IDA) is a very important causative factor for childhood anemia. The aim of this study was to find the prevalence of anemia in different age group, sex, and its pattern of severity in hospitalized children. MATERIALS AND METHODS: A cross-sectional study was carried out in a teaching hospital in Kolkata between April 2016 and September 2016. Children 1-168 months of age were included in the study. RESULTS: Of 697 children, 296 (42.5%) had anemia as per the World Health Organization criteria. Males outnumbered the females with a ratio of 1.6:1. The median age of presentation was 29.6 months. The majority were from 1-5 years of age. About 73.3% of children had moderate anemia, whereas 21.3% had severe anemia and only 5% had mild anemia. The mean hemoglobin, mean mean corpuscular volume, mean mean corpuscular hemoglobin concentration, and mean red cell distribution width were 9.3 ± 1.4 g/dL, 73.6 ± 8.8 (fL), 32.2 ± 2.6, and 16.3 ± 3.4 (%), respectively. Microcytic hypochromic anemia (71.3%) was the most common morphological type in all age groups, whereas macrocytic anemia was the least common among them. Prevalence of IDA was 69%. IDA was documented in close to 80% of children with microcytic hypochromic anemia. Interestingly, IDA was also documented in almost half of the children with normocytic normochromic anemia. CONCLUSION: The high prevalence of IDA among these hospitalized children indicates the role of early screening for IDA in all children with anemia. This early diagnosis and prompt management can prevent the mortality and morbidity related to IDA.