BACKGROUND: Histiocytic disease is a diverse disease, characterized by multisystem involvement, diagnosis and management can be challenging. Guidelines are important tool to provide evidence-based management; however, guidelines for management of adult histiocytic disease are scarce. METHODOLOGY: A multidisciplinary team from Saudi Arabia developed guidelines to manage the adult histiocytic disease with an intention to provide standard of care for diagnosis and management of the most frequently encountered subtypes of adult histiocytic disease in the region. RESULTS: Detailed guidelines to different categories of histiocytic disease were finalized after review of many international guidelines and extensive literature review. CONCLUSION: Local guidelines for adults histiocytic disease was developed and can be shared with different hematology centers.

INTRODUCTION: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for children with serious hematological disorders including thalassemia major (TM) and sickle cell disease (SCD). This study aimed to determine the frequencies of transplant-related morbidity and outcome in our tertiary health-care facility. MATERIALS AND METHODS: We retrospectively analyzed the clinical, laboratory, and outcome data of 32 cases of hemoglobinopathies (TM = 19 and SCD = 13) who underwent bone marrow (BM) transplantation between 2005 and 2016. SPSS was used for statistical analysis, and Kaplan–Meier curve was constructed for overall survival (OS) and event-free survival. RESULTS: The median age of the study population at the time of transplant was 7.8 (range 2–14 years). Male-to-female ratio was 1:1. All patients were received allogeneic full matched related donor transplantation. Conditioning regimen was Bu/Cy/antithymocyte globulin (ATG) for SCD and Flu/Bu/Cy/ATG for TM. Source of stem cell in all patients was bone marrow and median stem cell dose CD 34+ was 5.26 (range 2.9–9.9) × 10⁶/kg. All patients were received cyclosporin and methotrexate for graft versus host disease (GVHD) prophylaxis. Acute and chronic GVHD were observed in 10 (31.25%) and 2 (6.3%) cases, respectively. The median time to absolute neutrophil count (ANC) engraftment was 22 days (range: 12–27), and the median time to platelet engraftment was 32 days (range: 18–45) in 28 patients and the remaining four patients had delayed platelet engraftment (62–90 days). Cytomegalovirus (CMV) reactivation was observed in 18 (56.3%) cases; majority were asymptomatic (n = 17/18; 94.4%). Three-year event-free survival (EFS) and OS were 90.6% and 93.7%, respectively, with median duration of follow-up 33.72 (± 25.3) months. CONCLUSION: The results of the pediatric HSCT for hemoglobinopathies at our institution are excellent and are comparable to published reports from international collaborative groups.

BACKGROUND: Platelet dysfunction may be one of the pathophysiologic complications in beta-thalassemia patients. However, the results obtained from the platelet aggregation vary in different types of β-thalassemia and among patients. OBJECTIVE: We evaluated the platelet function to determine risk of thrombosis in two groups': beta-thalassemia major (TM) and intermedia (TI). MATERIALS AND METHODS: In a cross-sectional study, platelets of 82 adult patients with beta-thalassemia (46 β-TM and 36 β-TI) who had undergone splenectomy and 85 normal healthy individuals as control were induced by collagen 10 μ g/ml, adenosine diphosphate (ADP) 20 μ M/l, arachidonic acid 500 μ M/l, and ristocetin 1500 μ g/ml. Independent t-test was used to compare the mean values using SPSS 16. P < 0.05 was taken to indicate statistical significance. RESULTS: Although a significant increase was observed in the platelet aggregation by collagen, ADP, and arachidonic acid in β-TM patients as compared with healthy controls, the β-TI patients showed no difference (P < 0.05). There was no significant alteration in response to ristocetin in β-TM but it reduced in β-TI. CONCLUSIONS: The platelet aggregation in β-TM patients is more than β-TI, both of whom splenectomized. The platelet aggregation in beta-thalassemia might be impressed by transfusion. Given these changes, thrombotic risk should be considered in beta-thalassemia patients.

BACKGROUND: Although blood ordering is a common practice in surgical field, in obstetric patients too requests are commonly made to crossmatch units of blood for patients in whom bleeding is anticipated and to provide precautionary cover for cesarean section. This was a prospective study on blood requisition and utilization practice among obstetric patients at our center. METHODS: Data collection pro forma was used to collect information from antenatal case notes on demographics, transfusion request, units transfused, reason for transfusion, and related laboratory data. Blood utilization was calculated using crossmatch to transfusion ratio (C/T), transfusion probability (%T), and transfusion index (TI) indices for all obstetric conditions. The maximum blood ordering schedule (MBOS) was used to develop algorithm for obstetric conditions. RESULTS: The incidence of red blood cells transfusion among all obstetric admissions was 708 out of 17275 (4.1%). Only 18% of blood requested for obstetric patients actually received transfusion. The overall C/T ratio, transfusion probability, and TI in obstetric patients during the study were 3.5%, 19.3%, 0.35%, respectively. Transfusion algorithm by classifying all obstetric conditions into three categories was developed based on MBOS for obstetric indications at our center. CONCLUSION: Although blood was reserved for the most obstetric patients, majority of the patient did not require transfusion. Hence, a new blood reservation and pretransfusion policy were recommended to minimize overordering and needless operating expenses for blood banks.

BACKGROUND: von Willebrand disease (vWD) is the most common hereditary bleeding disorder, affecting up to 1% of the general population. OBJECTIVES: Estimating the prevalence of vWD among adolescents. DESIGN: This study was conducted between February 2014 and January 2016 on Saudi students in Riyadh. SETTINGS: We conducted an epidemiological survey on university students, using the standardized questionnaire based on molecular and clinical markers for the diagnosis and management of type 1 VWD. MATERIALS AND METHODS: All blood samples were tested for complete blood count, prothrombin time, partial thromboplastin time (PTT), and platelet function analyzer (PFA-100). MAIN OUTCOME MEASURES: Samples had an abnormal result of PTT and/or PFA-100 were tested for von Willebrand factor (vWF) antigen and factor VIII (FVIII) activity. SAMPLE SIZE: 2000 university students aged between 17 and 22 years were included. RESULTS: Of these students, 730 (36.5%) had reported bleeding symptoms, 326 (44.6%) had agreed to give blood samples, 116 (35.5%) samples had prolonged PTT (>41 s), 48 (14.7%) had prolonged PFA-100 adenosine diphosphate, 39 (11.9%) had prolonged PFA-100 epinephrine, and 72 (22.0%) had abnormal results in both PTT and PFA-100. Out of 275 samples tested for vWF (Ag and activity) and FVIII, 13 (3.9%) had reduced levels or nonfunction of vWF and 5 (1.6%) had reduced FVIII levels. After correlation with ABO blood group, only 5 (1.6%) cases were confirmed for vWD. The prevalence of vWD among Saudi adolescents in the selected student population was 1.5%. CONCLUSION: In this study, we report for the first time epidemiological survey of bleeding disorders in Arab ethnicity. LIMITATIONS: As this is a prevalence study, we have no limitations to discuss.

BACKGROUND: Genetic red cell disorders are common in Arabic countries with a significant burden on healthcare systems. OBJECTIVES: We aimed was to assess the level of awareness of Saudi females toward potential risk of the most common inherited anemia in the region. METHODS: A cross-sectional questionnaire-based study was undertaken on 386 undergraduate students. RESULTS: The majority (60%) of participants have a poor knowledge score. The self-reported incidence of sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and thalassemia among them was 7.3%, 4.9%, and 3.4%, respectively. Even though the majority (86.8%) expressed a positive attitude toward premarital screening tests, a wrong perception was noticed as 45.1% of them believe that irrespective of the test result, marriage decision will not be changed and 38.9% will refuse to marry a person who is a carrier of inherited anemia even if she is free of same disorder. Only 47.4% will refuse to marry a carrier if she was the carrier of some genetic disorders. CONCLUSION: Inadequate knowledge and wrong perception reflect the need to raise their awareness. Mass media should be greatly encouraged. Long-term regular targeted health education campaigns should be designed for adult Saudi, thereby reducing the burden and detrimental effect of these disorders in the community.

Vitamin B₁₂ is essential for DNA and RNA synthesis. Vitamin B₁₂ deficiency usually occurs in infants who are exclusively breastfed born to Vitamin B₁₂-deficient mothers. Even though macrocytic anemia is the classic feature, the spectrum of hematological findings due to Vitamin B₁₂ deficiency ranges from simple macrocytosis to life-threatening hemolytic anemia. Other manifestations of Vitamin B₁₂ deficiency in infants include delay in growth and development, anorexia, diarrhea, sparse hair, failure to thrive, abnormal pigmentation, hypotonia, and enlarged liver and spleen. Herewith, we are presenting a 6-month-old child with growth retardation, persistent diarrhea, anorexia, irritability, anemia, and splenohepatomegaly due to Vitamin B₁₂ deficiency who responded to Vitamin B₁₂ therapy.

India has a huge burden of β-thalassemia with an estimated 100,000 patients and a prevalence of 3%–4% carriers. The five common mutations reported in the India are IVS 1–5 (G->C), IVS 1-1 (G->T), codon 41/42 (-TCTT), codon 8/9, and 619 bp deletion. We report this rare case of IVS 1-1 G>C variant (hemoglobin [Hb] Monroe) in homozygous form in a child of Goan origin. The propositus presented at 3 months with pallor, hepatosplenomegaly, and lymphadenopathy. Diagnostic workup of the child was suggestive of β-thalassemia major, the parents Hb electrophoresis revealed β-thalassemia trait in the mother, whereas the father had elevated HbF levels. Initial polymerase chain reaction by ARMS (amplification-refractory mutation specific) was negative for the common five mutations. β-globin full gene sequencing revealed the presence of IVS-1-1G>C (Hb Monroe) in the homozygous form and also c.-92 C>G in the homozygous form, the mother was heterozygous for both the mutations, whereas the father was negative. STR marker studies did not indicate uniparental disomy to be the reason for IVS-1-1 G>T homozygosity in the child in the absence of the same mutation in the father. The father showed a possibility of δβ deletional mutation. This report highlights the importance of molecular studies in participants with borderline HbA2 levels, including spouse of a typical β-thalassemia carrier. Assaying for only the common five mutations may not yield complete answers. Full gene sequencing should be performed in those individuals with a strong phenotype of β-thalassemia. The prenatal diagnosis should be offered to couples at risk.