"The existence of a constant blood particle differing from red and white blood cells has been suspected by several authors for sometime…Morphological elements of a third kind are circulating within the vessels, besides red and white blood corpuscles…This thrombotic material may be of great value in stopping haemorrhages by closing discontinuities in a vessel wall.'' (Giulio Bizzozero) 1846-1901

We present the data of 10 patients with sickle cell hepatopathy with intrahepatic cholestasis, including those of 2 patients with chronic intrahepatic cholestasis. We prospectively evaluated 126 consecutive patients (men, 48%; median age, 25 years; age range, 13-49 years) with homozygous (HbSS; 120 cases) or sickle cell-beta thalassemia (HbSbeta-thal; 6 cases), who were admitted to our Hematology Department between 2006 to 2011. All the patients were admitted with vaso-occlusive crisis. Ten patients showed evidence of intrahepatic cholestasis and were designated as group 2. Their data were compared with those of the other patients who where designated as controls (group 1; n = 116). On univariate regression analysis, the incidence of sickle cell hepatopathy was significantly increased by increased white blood cell and neutrophil counts, and alanine aminotransferase (ALT)and C-reactive protein levels. In a multivariate logistic regression model, only the elevated ALT levels remained an independent predictor of sickle cell hepatopathy. On follow-up, persistent jaundice with hyperbilirubinemia was observed in 2 patients with a chronic course of intrahepatic cholestasis. These patients were siblings, suggesting genetic predisposition. In conclusion, sickle cell hepatopathy with intrahepatic cholestasis is quite complex, with heterogeneous clinical presentations. Successful treatment requires mainly exchange transfusion. An elevated ALT level can be a predictor of the occurrence of sickle cell hepatopathy during sickle cell vaso-occlusive crisis. Moreover, genotyping investigation may help define mutations that confer risk or protection from intrahepatic cholestasis in patients with sickle cell anemia.

Tumor necrosis factor (TNF)-(308) promoter polymorphism is associated with the risk of large vessel stroke in African American patients with sickle cell anemia (SCA). The influence of TNF (-308) polymorphism on the clinical severity of SCA in Saudi patients is unknown. Patients homozygous for HbSS (SCA) were enrolled in the study. The frequency of SCA complications was determined for each patient. Laboratory tests included measurement of complete blood count, reticulocytes, lactate dehydrogenase, glucose-6-phosphate dehydrogenase level, and hemoglobin electrophoresis. TNF (-308) promoter polymorphism and presence of a-thalassemia were also determined. A total of 137 patients with SCA were enrolled in our study. Their average age was 18.9 years (range, 1-54 years). G/G in TNF (-308) was observed in 127 patients (92.7%), G/A in 9 patients (6.6%), and A/A in 1 patient (0.7%). Six (4.3%) patients had overt stroke. Of these, 5 patients had the G/G polymorphism and only 1 patient had G/A at TNF (-308) position. This difference was not statistically significant (P = 0.34). TNF promoter polymorphisms did not affect any other clinical or laboratory variables. Our study results suggest that TNF (-308) promoter polymorphism does not influence the severity of the SCA phenotype in Saudi patients. However, a larger sample size is needed to validate our results.

The human T-lymphotropic virus types 1 and 2 (HTLV-1/HTLV-2) were the first retroviruses to be identified in 1980 and 1982, respectively. Both viruses share approximately 60% homology at the genetic level. HTLV-1/HTLV-2 infection is distributed worldwide but is endemic only in certain areas. Cellular blood products are the main source of transfusion-associated HTLV transmission. In this retrospective study, we aimed to determine the prevalence of HTLV- 1/HTLV-2 antibodies in 101,900 serum samples obtained from donors in the Prince Sultan Military Medical City, Saudi Arabia, between June 2006 and June 2012. HTLV-1/HTLV-2-specific antibodies were detected using enzyme-linked immunosorbent assay (ELISA) or chemiluminescent microparticle immunoassay (CMIA) and were confirmed by western blot (WB) analysis. The serum samples were obtained from donors (n = 101,900; 98.42% male donors and 1.58% female donors) with a mean age of 32 years who were screened for HTLV-1/HTLV-2. Of these donors, 58 (0.06%) tested positive by ELISA or CMIA during the primary screening. To confirm the results, the HTLV-positive samples were subjected to WB analysis. The WB results indicated that 55 (94.83%) of the 58 specimens tested HTLV-positive by ELISA or CMIA were HTLV-1/HTLV-2-negative and 3 (5.17%, all from Saudi Arabia) were indeterminate. The prevalence of HTLV-1/ HTLV-2 infection among the blood donors in our study was almost 0% (only 3 specimens were indeterminate, or 0.00029 of the total blood donors), indicating that Saudi Arabia is a non-endemic area. However, further studies are needed to confirm these results.

We sought to develop a simple screening test for hereditary spherocytosis (HS) among neonates using the erythrocyte indices. This concept was based on the fact that the mean corpuscular hemoglobin concentration (MCHC) in children with HS is generally elevated and on our observation that many neonates (but not older children) with HS have a low mean corpuscular volume (MCV). Erythrocyte indices of neonates with confirmed HS were compared with those of a control group without HS. Thirty-three newborns with HS had 1-22 complete blood counts (CBCs) during their first 90 days of life; 24 of these newborns had a parent with HS, while 9 had no family history of HS. The MCHC of the 33 newborns with HS averaged 36.2 (95% confidence interval [CI], 34.8-37.8), and the MCV averaged 89.9 (95% CI, 81.1-99.3). In the control group (n = 40,946), the MCHC averaged 34.0 (95% CI, 32.3-35.7) and the MCV averaged 106.7 (95% CI, 100.0-113.5). For each CBC, we calculated a "Neonatal HS Index" by dividing the MCHC by the MCV. The index was 0.41 ΁ 0.03 in those with HS and 0.32 ΁ 0.01 in the controls (P = 0.0000). An index of >0.36 had 97% sensitivity, >99% specificity, and a >99% negative predictive value for identifying HS. Thus, the Neonatal HS Index can be used for rapid and simple screening of newborn infants for hereditary spherocytosis.

Patients with sickle cell disease are considered high risk groups for hepatitis viruses infections due to their need for blood transfusions, and surgical interventions resulting from complications while admission in different health service centers. Therefore, this study aimed to determine the prevalence of hepatitis B and C infections in sickle cell anemia patients in the eastern province of Saudi Arabia. This is a retrospective study was conducted at the medical department at King Fahad Hofuf hospital - AL-HASSA, and 211 adult patients (age >12 years) with sickle cell disease were finally included in the study .we collected demographic information including their age, sex and nationality. As well as data of laboratory tests for determining the levels of transaminase, bilirubin, alkaline phosphatase in addition to hepatitis B and C viral markers. ALL 211patients were Saudi nationals native, and the ages of patients are ranged from (12 to 73 years) (mean 29.7 ΁ 8.9 years). There were 142 Male (67%) and 69 female ( 33%) patients. The overall ,prevalence of HCV -antibody was (5.7 %) (12/211out 211 patients), while 2of 211 (0.95%) patients were positive for HBS Ag. The prevalence of hepatitis C infection in sickle cell disease patients were significantly higher than that observed in normal individuals. The results of our study highlights the need for regular screening of HBV and HCV in sickle cell disease patients.

We report a case of a 37-year-old man presenting with painful bilateral lower extremity edema and scrotal swelling that had persisted for 1 month. The patient had a medical history of bilateral pulmonary emboli. He was treated with inferior vena cava (IVC) filter placement and warfarin, and his course was complicated by heparin-induced thrombocytopenia and subsequent pulmonary hypertension, which necessitated pulmonary endarterectomy. His medical history included beta-thalassemia minor, with concurrent Janus kinase 2-positive polycythemia rubra vera (PRV). At the time of his present admission, a computed tomography scan revealed that the patient had bilateral iliac vein thrombosis and IVC thrombosis, with bilateral varicoceles. After an unsuccessful trial treatment with warfarin, the patient was treated with fondaparinux, and his condition improved clinically before he was discharged on hospital day 8. This is the first reported case of concurrent beta-thalassemia minor and polycythemia rubra vera in a male patient; it highlights the possible thrombotic risk associated with PRV, even in patients with normal red blood cell mass.