Primary familial and congenital polycythemia (PFCP) is a rare autosomal dominant disorder caused by hypersensitivity of erythropoietin receptor of erythroid progenitors leading to increased rate of erythropoiesis at any given serum erythropoietin level. The hallmark of this disorder is isolated erythrocytosis with the absence of splenomegaly and lack of secondary causes of polycythemia. In this short review, we will shed light on various aspects of PFCP with special focus on molecular pathogenesis and diagnostic approach.

BACKGROUND: DNA index by flow cytometry (DNAI-FCM) is a rapid technique used in classification of acute B-lymphoblastic leukemia (B-ALL). The objective of this study is to estimate the reliability of FCM in the early classification of childhood B-ALL and to analyze the causes of discrepancies between the DNAI-FCM and the cytogenetic studies (CG) (Karyotype and Fluorescent in situ Hybridization [FISH]). MATERIALS AND METHODS: DNAI-FCM and CG (Karyotype and FISH) were analyzed in 69 consecutive children, newly diagnosed with B-ALL in King Faisal Specialist Hospital and Research Centre between January 2013 and June 2014. RESULTS: A statistically significant correlation existed between DNAI-FCM and CG (P = 0.001). DNAI-FCM was proportional to CG in 82.6% (57/69) of the cases. There was a discrepancy between the DNAI-FCM and the CG in 17.4% (12/69) of the cases. CONCLUSION: DNAI-FCM shows 82.6% concordance with CG in childhood B-ALL with a predictive value of 81%. Discrepancies occur due to either the small size of the chromosome or due to insufficient genetic material representing the abnormality.

BACKGROUND: Translocation (8;21), t(8;21), is one of the most common cytogenetic abnormalities in adult de novo acute myeloid leukemia (AML) patients. It is usually associated with secondary chromosomal abnormalities; however, it's unclear whether these abnormalities affect the clinical characteristics of t(8;21) patients. OBJECTIVES: To investigate the effect of additional aberrations; loss of X chromosome and deletion of the long arm of chromosome 9 (del 9q)on the clinicopathological and immunophenotypic characteristics and prognostic behavioral of t(8;21) de novo AML. METHODS: Fifty six adults with de novo AML-M2 were enrolled. Detection of loss of X-chromosome and del 9q were performed using fluorescent in situ hybridization (FISH). RESULTS: More than half of the patients (53.6%) harbored a secondary chromosomal abnormality in addition to t(8;21). Del 9q was found in 17.9% of the patients. A significant association was found between this chromosomal aberration and age, hepatomegally, high total leucocytic count and low platelets count (P< 0.05). Most patients had poor clinical outcome, high tendency for resistance to therapy and significantly shorter survival. On the other hand, loss of X chromosome was found in 25% of the studied patients and was not related to clinicopathological features or prognostic markers except for high platelets count and low expression of aberrant CD19 (P< 0.05). CONCLUSIONS: 9q deletion associated t(8;21) could be considered as an adverse prognostic predictor being associated with poor disease outcome and shorter survival of the patients. Thereafter the use of these cytogenetic aberrations would be recommended to guide therapeutic regimens.

BACKGROUND: Premarital screening (PMS) is a mandatory laboratory examination before marriage to identify genetic blood and some infectious diseases. Sickle cell anemia (SCA) and thalassemia are genetic disorders caused by errors in the hemoglobin genes and are prevalent in Saudi Arabia OBJECTIVE: This study assessed the knowledge and response of the Al-Madinah community regarding PMS program. METHODOLOGY: This cross-sectional study assessed the knowledge and attitude of Al-Madinah community regarding hereditary blood disorders. Thirty-seven interviewers conducted direct and electronic interviews from October 2016 to January 2017. RESULTS: The total number of respondents was 2554, among the participants, 61% noted that PMS can diagnose SCA, 5.3% noted that PMS cannot diagnose SCA, and 33.4% answered “I don't know.” Regarding thalassemia, 50.2% answered that PMS can diagnose thalassemia, 7.4% answered “no,” and 42% answered “I don't know.” Furthermore, 76.4% of the participants answered that PMS can prevent SCA, whereas 71% of the participants answered that PMS can prevent thalassemia. Approximately 88.6% of the participants agreed to undergo elective PMS, 78.2% of them will not marry someone who has SCA or thalassemia, and 79.5% of them will not marry someone with a genetic trait if they themselves have a trait. In terms of raising the community's awareness on various hereditary blood disorders, 95.9%, 93.9%, and 92.5% agreed on the importance of media, medical education in school, and seminars, respectively. CONCLUSION: As half of the population were unaware about the screened diseases, it is necessary to raise the community's awareness on the importance of PMS.

BACKGROUND AND OBJECTIVES: Many geriatric patients with different cytopenias are symptomatically treated and miss the diagnosis of myelodysplastic syndrome (MDS). The study was done to estimate the prevalence of elderly presenting with cytopenias in hospital population and to assess karyotyping profile and gene expression in mTOR pathway and correlate with clinical course. PATIENTS AND METHODS: Blood samples of patients (> 60 years) who visited outpatient department and who were in - patients being evaluated for anemias, were included. 15 patients were diagnosed with myelodysplastic syndrome. Karyotype profile and gene expression studies for S6K1 and 4E-BP1 and IPSS –R scoring were done. RESULTS: Among 521 patients, normocytic normochromic anemias was most common (48.3%).15 MDS patients were classified (WHO classification) as - Single lineage dysplasia -6, multilineage dysplasia-5 multilineage dysplasia with excess blasts 1- and three with hypo plastic marrow. There was no significant correlation between the karyotype and subgroups of MDS and age. IPSS scoring showed patients, with very low score – n-1 (ARR-1.3) low score n-6 (ARR- 1.6-2.8) intermediate score n-4 (ARR 3.1-3.7). During follow up for two years one death was reported in the intermediate category. Quantification of mRNA expression of S6K1 and 4EBP1 showed absence or reduction in all cases. CONCLUSIONS: An incidence of 2.8% MDS was observed. The median age reported is consistent with Asian literature. IPSS-R scoring with inclusion of cytogenetic analysis helped in effective risk stratification of patients for management. Though no definite conclusions can be drawn on expression of S6K1 and 4EBP1 of mTOR pathway due to limited sample size, their role in the cytopenia cannot be ruled out.

Kala azar is a chronic parasitic infection which usually presents with fever, splenomegaly, and pancytopenia. Here is a case of a 9-month-old girl who presented with history of repeated blood transfusions for 3 months and later with fever and splenomegaly. Complete blood count showed bicytopenia with significant dysplasia seen in marrow aspiration smears. Secondary causes of dysplasia such as vitamin deficiency, drugs and toxins, and viral infections were ruled out and the patient was advised cytogenetic study to rule out refractory cytopenia of childhood. Subsequently, RK39 antigen result came out to be positive, and on reexamination, the slides showed few amastigote forms of Leishmania donovani. Hence, a diagnosis of Leishmaniasis with secondary dysplasia was made. Some cases may have the classic clinical features of LD infection although it has been emphasized here that myelodysplasia is a relatively uncommon presentation of LD infection. Hence, serological tests for Leishmania should be carried out along with a careful search for the parasite in all smears to avoid a grave diagnosis of myelodysplastic syndrome.

Factor X (FX) is a Vitamin K-dependent, serine protease produced by the liver that serves pivotal role as the first enzyme in the so-called common pathway of coagulation cascade in fibrin formation. Inherited FX deficiency is a rare autosomal recessive bleeding disorder that is found in 1:1,000,000 individuals. Classification of severity is based on FX coagulant activity. Specific FX replacement product is not yet readily available, but fresh frozen plasma (FFP) and prothrombin complex concentrates can be used for treatment of bleeding symptoms and preparation for surgery. Here, we reemphasize the approach to a patient with severe FX deficiency, who had a successful pregnancy outcome through the rationale use of FFP.