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The discovery of circulating cell-free fetal DNA (cff-DNA) in maternal plasma has inspired the noninvasive prenatal testing (NIPT) approaches for various genetic fetal screening including rhesus D typing, sex determination, aneuploidies, and single-gene disorders. Noninvasive determination of paternally inherited beta-thalassemia mutations in maternal total cell-free DNA (cf-DNA) by using allele-specific amplification refractory mutation system (ARMS) real-time PCR (RT-PCR) in concordance with the conventional invasive method. An observational study was conducted at the Armed Forces Institute of Blood Transfusion in collaboration with the genetics resource center from March 2021 to August 2021. A total number of 26 couples were selected having a history of previously affected children with beta-thalassemia. A routine chorionic villus sampling (CVS) invasive procedure was carried out, and the mutation analysis was done using conventional PCR. To assess NIPT, a total cf-DNA was also extracted from maternal plasma and analyzed using allele-specific ARMS RT-PCR. Based on conventional PCR testing, 13 of 26 couples were found having beta-thalassemia carriers with homozygous mutation, and 13 couples were carriers with heterozygous mutations. Further to assess NIPT, the cf-DNA of 13 pregnant females among the couples with different mutational patterns was analyzed by allele-specific ARMS RT-PCR to detect paternally inherited mutations. In comparison with conventional PCR, 11 cases (84.6%) were matched successfully, while two cases (15.4%) had no concordance with conventional invasive prenatal testing (IPT). NIPT using maternal cf-DNA by allele-specific ARMS RT-PCR can be feasible to screen paternal inherited mutant alleles to rule out pregnant women from invasive procedures where the test would be negative for paternal inheritance. However, a low amount of fetal DNA in maternal plasma is a limiting factor and required further improvement to enrich fetal cf-DNA for complete concordance with conventional IPT. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency and clinical features of inherited platelet function disorders diagnosed at Armed Forces Institute of Pathology. Study Design: Cross sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Feb 2017 to Aug 2017. Methodology: All patients with history of bleeding from multiple sites or requiring transfusion were selected. Initial tests performed included complete blood counts, peripheral film and bleeding time. When bleeding time was prolonged, prothrombin time and activated partial thromboplastin time were done to rule out Von Willebrand disease and Fibrinogen deficiency. Results: A total of 172 patients were analyzed during study period. Inherited platelet function disorders were diagnosed in 24 (13.9%) patients, 111 (64.5%) patients had inherited coagulopathies. 3 (1.8%) patients showed inconclusive results while no inherited bleeding disorder was detected in 34 (19.8%) patients. Among platelet function disorders, Glanzmann thrombasthenia was diagnosed in 12 (50%) patients, Bernard soulier syndrome (BSS) in 11 (45.8%) patients and Storage pool disorder in 1 (4.1%) patient. Conclusion: Glanzmann thrombasthenia was the most commonest inherited platelet function disorders. Diagnosis requires platelet aggregation studies. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency and severity of anemia in children <15 years of age and find association of anemia with age and gender at Gwadar Development Authority Hospital, Gwadar, Baluchistan. Study Design: Cross sectional study. Place and Duration of Study: Gwadar Development Authority Hospital Gwadar, from Jun 2016 to Jun 2017. Material and Methods: Through consecutive sampling, 483 children reporting to the pathology department for hemoglobin estimation were sampled. The samples were taken through antecubital veins using aseptic technique and the hemoglobin was analyzed using Medonic M-series M32 Hematology Analyzer. The sample was divided into three groups based on age i.e. group-1 (age 6-59 months), group-2 (age: 5-11 years), and group-3 (age: 11-14 years). We used definitions of anemia given by the World Health Organization. The data were analyzed using SPSS version 20. Results: The mean age was 7.3 ± 4.3 years (range: 1-14 years). The frequency of anemia was 64.6% (n=312). Considering gender, the percentage of anemic children among male gender was 62.9% (n=132) and among females was 65.9% (n=180) (p=0.483). The percentage of anemic children was highest (74.5%) in group-1 (p<0.001). The gender could not find an association with anemia (p=0.483). Conclusion: Anemia had a frequency of 64.6% in children under 15 years of age at Gwadar Development Authority Hospital, Gwadar. Age-group of 1-59 months had the highest percentage of anemic children. The gender did not have any association with anemia. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency and severity of anemia among pregnant women and find association of anemia with age, number of pregnancies, and the trimester of pregnancy at Gwadar Development Authority (GDA) Hospital, Gwadar, Baluchistan. Study Design: A cross-sectional study. Place and Duration of Study: Gwadar Developmental Authority Hospital, Gwadar Pakistan, from Sep 2017 to Feb 2018. Methodology: Through consecutive sampling, we included 200 women diagnosed with pregnancy reporting for routine checkup. The samples were taken through antecubital veins using aseptic technique and the hemoglobin was analyzed using Medonic M-series M32 Hematology Analyzer. We used definitions of anemia given by the World Health Organization. The data were analyzed using SPSS version 20. Results: The mean age was 26.2 ± 5.6 years (range: 17-43 years). The mean hemoglobin was 10.1 ± 1.4 g/dL while the mean values for mean corpuscular volume and mean corpuscular hemoglobin were 70.5 ± 10.1 f Land 24.1 ± 4.2 pg respectively. The frequency of anemia was 73% (n=146). Most (40%, n=80) women had anemia of moderate intensity. Mild anemia was most prevalent in the first trimester while moderate and severe anemia was in the third trimester. No significant interactions of woman's age, number of pregnancies, and the trimester of pregnancy were found with the presence of anemia. Conclusion: The frequency of anemia among pregnant women attending GDA hospital was 73% with maximum women having moderate anemia. Woman's age, number of pregnancies, and the trimester of pregnancy did not have any significant association with anemia. [ABSTRACT FROM AUTHOR]