Glanzmann thrombasthenia is a rare disorder, due to quantitative and/or qualitative abnormalities of the platelet integrin αIIbβ₃ and/or αIIbβ3. Although it is considered a rare disorder with a global incidence of 1/1,000,000 population, the case is different at the Gulf Cooperation Council countries, where prevalence rate as high as 1/40,000 in Madinah, Saudi Arabia. This makes it necessary to develop patient's management guidelines. Due to limited resources in the literature, experts' consensus was important to develop such guidelines. Experts panel elected to use recombinant activated factor VII (rFVIIa) as the first line of treatment of acute bleeds and reserve platelets transfusion for nonresponding patients or severe bleeds, rFVIIa at high dose (270 μg/kg body weight) may tried upfront. rFVIIa may be tried as prophylactic treatment in patients with frequents bleeds. Experts panel elected to allow girls with Glanzmann thrombasthenia to have menstruation and to adapt a special protocol for this purpose (Madinah protocol). Pregnancy should be managed carefully, where normal delivery encouraged under coverage of rFVIIa. Risk of bleeding should be expected in neonates. Minor surgeries and dental workup can be managed under coverage of rFVIIa. Glanzmann thrombasthenia patients with severe disease should be encouraged for hematopoietic stem cell transplant.

BACKGROUND: Considering the higher use of fresh-frozen plasma (FFP) in our hospital, we desired to determine the pattern, prevalence, and potential complications of its utilization in new-born and children with the primary aim to observe its effect on the conventional coagulation screening (CCS) parameters. SUBJECTS AND METHODS: Patients' demographics, clinical indications, and pre- and posttransfusion CCS parameters such as the prothrombin time, the international normalized ratio (INR), and partial thromboplastin time were observed over a period of 10 months. Any improvement observed in the laboratory parameters after FFP transfusion was noted. RESULTS: We studied 433 episodes, where 499 FFP units were utilized in 184 patients. Mean age in years was 6 ± 0.16 (new-born to 17). Diagnoses-wise majority had diffuse intravascular coagulation with sepsis 25% (46/184) followed by febrile illness 23% (42/184). Around 46% (84/184) patients had bleeding episodes of which four had known family history of bleeding (three factors IX and one factor XI deficiency). Mean doses of FFP utilized (mL/kg) in children and infants were 12.6 ± 6.3 (n = 297 episodes) and 14.4 ± 6.3 (n = 136 episodes), respectively (P = 0.006). Mean change in INR in the cohort with deranged coagulation parameters against the overtly bleeding cohort was 0.85 versus 0.40 (P = 0.006). CONCLUSION: The study elicits minimal evidence in correcting the coagulation parameters, especially in the infants, whenever FFP was transfused prophylactically. Joint-decision making of the pediatricians and transfusion medicine physician would promote judicious use in children.

BACKGROUND: Thalassemia complications affecting different body systems, including osteoporosis and bone fracture. Although numerous studies are available in the literature, little is known about this subject in Saudi Arabia. OBJECTIVES: The study aimed to describe the characteristics of thalassemia patients in Madinah City, Saudi Arabia and to assess the prevalence of bone disease among them with an emphasis on Vitamin D and Ferritin level. SUBJECTS AND METHODS: A hospital-based retrospective cohort study was designed. The study was carried out on 69 β thalassemia patients from King Fahd Hospital in Madinah, Saudi Arabia from 2015 to 2017. The study extracted patients' data related to their personal, clinical, laboratory, and complications. Data on DEXA scan were also obtained for 20 of the studied patients. The prevalence rate of bone fracture among the studied patients was calculated, and other collected data were tabulated in number and percentage for categorical variables and mean and standard deviation for quantitative variables. RESULTS: All the studied patients were of β thalassemia patients. Two-thirds of them were anemic (66.7%). The prevalence of bone fractures was 14.5% (95% confidence interval = 8.1–24.7), iron overload of >1000 was found in 62 patients (89.9%) and ferritin level of <10 ng was found in 19 patients (27.5%). Vitamin D level was ranging from 10 to 24 ng in 39.1% and from 25 to 80 ng in 11.6% of studied patients. Furthermore, the Z score value was <−2 of the spine in 83.7% of 20 patients underwent DEXA scan in our study. Among these 20 patients, the mean Z score value of the femur was − 2.1. CONCLUSIONS: The prevalence of bone fracture among thalassemia patients in Madinah City, Saudi Arabia was relatively high accounting for 14.5% of the studied patients. Low level of Vitamin D and high iron overload and ferritin level was prevalent among the studied patients. Further studies from multiple centers and cities are needed to more understanding of this important issue.

INTRODUCTION: B-cell chronic lymphocytic leukemia (B-CLL) is a unique lymphoproliferative disorder that scarcely occurs under the age of 40. B-CLL represents a neoplastic disorder caused primarily by defective programmed cell death and accompanied by a myriad of cellular and humoral immune defects. AIM: This study aimed to assess Bcl-2 and CD14 expression in B-CLL patients and their study as probable prognostic and therapy targeting factors. PATIENTS AND METHODS: In this study, we assessed Bcl-2 and cluster of differentiation (CD14) expression in a group of Egyptian patients with B-CLL. Forty B-CLL patients and 20 apparently healthy individuals served as the control group were included in this study. STATISTICAL ANALYSIS: SPSS statistical software (IBM SPSS Inc., version 20, Chicago, Illinois, USA) was used for statistical analysis. RESULTS: Aberrant expression of Bcl-2 protein appeared in all B-CLL patients (100%). Bcl-2 expression showed a highly positive correlation with total lymphocyte count and lymphocyte count (P =0.000 for both) and a positive correlation with lactate dehydrogenase (P = 0.044). The expression of myelomonocytic antigen “CD14” above the cutoff value 5 × 109/L was reported in 70% (28/40) of B-CLL patients, 55.6% (10/18) of the intermediate-risk group, and 81.8% (18/22) of high-risk group. CONCLUSION: There was a significant increase in Bcl-2 protein and CD14 in B-CLL patients. Bcl-2 was highly increased in all patients and CD14 more observed in the high-risk group than that of the intermediate risk group.

BACKGROUND: Hepatitis B is an important public health problem for Pakistan. Being asymptomatic in many of the carriers, it needs screening to assess disease burden. Screening blood donors will not only help point out the subliminally diseased individuals but will also offer a boost to treatment rates and preclude the dreaded complications in the affected population. AIM: The aim of this study is to estimate disease burden and depict current trend of Hepatitis B in healthy blood donors by assessing its prevalence at one of the largest hospitals of Pakistan over a 2-year interval. This will serve to offer a direction to health policymakers to channel their resources in an attempt to accelerate diagnostic, preventive, and therapeutic measures against the disease. METHODOLOGY: It is a retrospective single-center cross-sectional study. We screened 76,530 healthy blood donors for hepatitis B virus (HBV) visiting Mayo Hospital, Lahore, Pakistan during 2016 and 2017 with rapid test kits which used lateral flow immunoassay based on the principle of double antibody sandwich technique. RESULTS: Out of 76,530 donors in 2016 and 2017, we detected 1262 donors (1.65%) positive for hepatitis B viral serology. CONCLUSION: We found a positivity rate of 1.65% of hepatitis B in healthy blood donors during 2 years. Although in comparison to 2016, the positivity rate has somewhat declined in 2017, but it remains worrisome. Our findings endorse the need for policy making to sustain and amplify the current HBV screening and treatment strategies and enhance public awareness.

Sickle cell disease is highly prevalent in Saudi Arabia, especially in the eastern and southern regions of the country. Neurofibromatosis Type 1 is one of the most common autosomal dominant disorders. In our case, we report a coexistence of both these diseases in a 15-year-old girl. This coexistence has never been reported in literature. Clinical manifestations of both the diseases and their possible link with each disease are discussed.