Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. A gain-of-function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. We describe a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2, possibly due to maternal germline mosaicism. K E Y W O R D S developmental delay, heterogeneous nuclear ribonucleoproteins, HNRNPH2, hypotonia, intellectual disability, X-linked dominant

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal recessive (AR) forms are being identified, which are caused by defects in genes involved in collagen metabolism, bone mineralization, or osteoblast differentiation. Bi-allelic mutations in WNT1 have been associated with a rare form of AR OI, characterized by severe osteoporosis, vertebral compression, scoliosis, fractures, short stature, and variable neurological problems. Heterozygous WNT1 mutations have been linked to autosomal dominant early-onset osteoporosis. In this study, we describe the clinical and molecular findings in 10 new patients with AR WNT1-related OI. Thorough revision of the clinical symptoms of these 10 novel patients and previously published AR WNT1 OI cases highlight ptosis as a unique hallmark in the diagnosis of this OI subtype. K E Y W O R D Scollagen, osteogenesis imperfecta, ptosis, WNT1

Background: Platelet transfusions are essential to prevent morbidity and mortality in patients who are severely thrombocytopenic and are at risk of spontaneous bleeding. Platelets are currently obtained either by fractionation of whole blood or by platelet apheresis. The quality of single donor platelets (SDP) in terms of yield influences platelet recovery in the recipient and allows prolonging intervals between transfusions. Material and Methods: Donor demographic and laboratory data were analyzed prior to performing plateletpheresis to identify donor factors that influence platelet yield. The study was conducted on 130 healthy, first-time plateletpheresis donors over a period of 4 years. The plateletpheresis procedures were performed using Fresenius Kabi COM.TEC and Hemonetics MCS plus separator. A relationship between pre-donation donor variables and yield of platelets was studied using the Pearson correlation. Results: The mean platelet yield was 3.160.62x10 11 per unit. A positive correlation was observed between platelet yield and pre-donation platelet count, body mass index (BMI; Kg/m 2) of the donor, while a negative correlation was observed between age and the platelet yield. Conclusion: Donor pre-donation platelet count, BMI and donor age influence platelet yield. Young healthy donors with a high platelet count and better BMI can give a better platelet yield in the SDP.

Background: The ABO and Rhesus (Rh) blood group systems are important for transfusion of blood and its components, organ transplantation, genetic studies and in medico-legal issues. Despite the long list of several other blood groups discovered so far, the knowledge and distribution of ABO and Rh-D blood group are essential for effective management of blood bank inventory. Methods: We retrospectively studied the distribution of ABO and Rh blood group antigens in donors presenting to our tertiary care teaching hospital blood bank in south India during the period January 2007 to August 2014. Blood group was determined by commercially available standard monoclonal antisera by test tube agglutination technique. Results: A total of 49,110 donor samples were tested during the study period for ABO grouping and Rh-D typing. Out of these 96.9% were males. The frequency of O, B, A, AB and Bombay blood groups were 41.7%, 32.2% 20%, 6.1% and 0.03% respectively. Rh (D) positive and negative blood groups were seen in 92.8% and 7.2% respectively. The allele frequencies of the I A , I B and I O alleles were 0.1398, 0.2148 and 0.6454 respectively. In case of Rh-D group, the calculated gene frequencies for I D and I d were 0.7321 and 0.2679 respectively. Conclusion: Knowledge of blood group systems as documented in the present study helps in efficient management of blood bank and transfusion services in emergencies.

Background: All antibodies to red cell antigens, other than naturally occurring anti-A and anti-B are considered unexpected. They can be either alloantibodies or auto antibodies. In pregnant women, these antibodies may cross the placenta and cause haemolytic disease of the foetus and newborn (HDFN). Timely detection of such antibodies in antenatal women is essential for early management of HDFN. Methods: A prospective cross-sectional study was carried out on 2060 multiparous pregnant women attending the Government Maternity Hospital, Tirupati to detect prevalence of unexpected antibodies. The women were grouped and typed for ABO and rhesus (Rh) D antigens by tube method and screened for alloantibodies by column agglutination technology. The medical and detailed obstetric history of these women were reviewed. Results: The overall prevalence of alloantibodies was 1.1%. There was a statistically significant difference between alloimmunization rates in the Rh D-antigen negative and D-antigen positive women (12.8% versus 0.3%). The antibodies detected in this study were, anti-D (63.8%), anti-D+C (13.7%), anti-C, anti-E, anti-M, anti-Le a , and anti-Le b (4.5% each). Anti-D contributed to 77.3% of total alloimmunization in this study. Conclusions:In spite of the introduction of prophylactic Rh-immunoglobulin, anti-D (77.3%) is still a common antibody identified in the antenatal women of our region. In developing countries like India, universal antenatal antibody screening, though desirable may not be justified at present as the cost and infrastructure required would be immense. However, it is necessary to impose properly formulated protocols to screen at least the pregnant women with adverse obstetric history.