No abstract available.
Adult ; Fasting ; Glucose ; Hemoglobin A, Glycosylated ; Hemoglobin, Sickle ; Humans ; Plasma

No abstract available.
Adult ; Fasting ; Glucose ; Hemoglobin A, Glycosylated ; Hemoglobin, Sickle ; Humans ; Plasma

Aged ; Anemia, Sickle Cell ; complications ; pathology ; Arthritis, Rheumatoid ; complications ; Female ; Hemoglobin E ; Hemoglobin, Sickle ; Humans

Hemoglobin Bart's hydrops fetalis, characterized by a deletion of all four a-globin genes is the most severe and lethal form of Thalassemia disease. Mortality rate usually ranges from 60-100% of cases. Given the poor overall prognosis, most countries resort to pregnancy termination or expectant management as the only options to offer affected pregnancies.
This paper presents a case of the successful management of a primigravid, diagnosed with hydrops fetalis at 29 4/7 weeks age of gestation. She delivered successfully to a live, preterm, baby boy who was later found out to have hydrops fetalis due to Hemoglobin Bart's disease, and currently, continues to thrive past eight months of age.
This report aims to improve the clinicians' knowledge regarding the work up and management of pregnant patients diagnosed with hydrops fetalis, and increase the clinician's awareness on the epidemiology, importance of targeted screening, and diagnosis of Alpha-Thalassemia in Filipino patients.

No abstract available.
Anemia, Sickle Cell* ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Hemoglobin, Sickle* ; Humans

Translocation renal cell carcinoma (RCC) is a family of rare tumors recently identified in the pediatric and young adult population. We report the first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12). Usually people with the sickle cell condition are known to develop renal medullary carcinoma (RMC). To our knowledge, this is the first case described in the literature of a translocation RCC associated with sickle cell disease. Here we discuss the relation between translocation RCC, RMC, and sickle cell disease.
Anemia, Sickle Cell* ; Carcinoma, Medullary ; Carcinoma, Renal Cell* ; Female ; Hemoglobin, Sickle ; Humans ; Kidney Neoplasms ; West Indies ; Young Adult

Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.
Anemia, Sickle Cell/*diagnosis ; Anemia, Sickle Cell/*genetics ; Base Sequence ; Fathers ; Hemoglobin, Sickle/*genetics ; Heterozygote ; Homozygote ; Malaysia ; Mutation ; Nucleic Acid Amplification Techniques ; Pedigree ; Polymerase Chain Reaction ; Siblings

BACKGROUND AND OBJECTIVE: Sickle cell disease (SCD) is quite common in eastern Saudi Arabia and Avascular necrosis of femoral head (ANFH) occurs in 30% of the young patients leading to early joint arthroplasty. This study was conducted to assess the benefits of injection of osteoblasts in the avascular lesions of the head of femur. PATIENTS AND METHODS: A preset technique was used, 10 CC of bone marrow aspiration was performed under local anesthesia and aseptic technique. Osteoblasts were separated from the bone marrow cells. The avascular area was drilled and 10 million osteoblasts were transplanted at the lesion site. Patients were seen in the out patient clinic after two weeks for removal of the suture and addressed the questionnaire and examined for the range of movement. The follow up MRI was performed at 4 months. RESULTS: The average age was 20.2±3.9 years. The mean hemoglobin S was 81.6±4.8 percent. Quality of Life Score for Chronic Hip Disease was assessed and found at 8.6 (1 being the severe limitation and 10 being normal), whereas Harris hip score improved from 41.7±5.1 to 88.93±3.6 (p < 0.001). MRI of pre and post osteoblast implantation showed robust new bone formation and disappearance of the avascular lesions. CONCLUSIONS: The short term results were good and we believe the injection of osteoblast in the avascular lesion of head of femur is a less invasive procedure devoid of any untoward complications and merits such treatment in large patient group with longer follow up.
Anemia, Sickle Cell* ; Anesthesia, Local ; Arthroplasty ; Bone Marrow ; Bone Marrow Cells ; Femur ; Follow-Up Studies ; Head* ; Hemoglobin, Sickle ; Hemoglobins ; Hip ; Humans ; Joints ; Magnetic Resonance Imaging ; Necrosis* ; Osteoblasts ; Osteogenesis ; Quality of Life ; Saudi Arabia ; Stem Cells* ; Sutures

BACKGROUND: Sickle cell anemia (SCA) is a hereditary chronic hemolytic anemia with several clinical consequences. Intravascular sickling of red blood cells leads to multi-organ dysfunction. Moreover, several biochemical abnormalities have been associated with SCA. Gum arabic (GA) is an edible dried gummy exudate obtained from Acacia Senegal tree. GA showed antioxidant and cytoprotective activities and demonstrated protection against hepatic, renal, and cardiac toxicities in experimental rats. We hypothesized that regular intake of GA improves renal and liver functions in patients with SCA. METHODS: Forty-seven patients (5–42 yr) carrying hemoglobin SS were recruited. The patients received 30 g/day GA for 12 weeks. Blood samples were collected before administering GA and then after 4, 8, and 12 weeks. Liver enzymes, total protein, albumin, electrolytes, urea, creatinine, and uric acid were determined in the serum. The study was approved by the Al Neelain University Institutional Review Board and Research Ethics Committee Ministry of Health. The trial was registered at ClinicalTrials.gov (identifier: NCT02467257). RESULTS: GA significantly decreased direct bilirubin level [statistical significance (P-value)=0.04]. It also significantly decreased serum alanine transaminase level after 4 weeks, which was sustained till the 8th week. GA, however, had no effect on serum aspartate transaminase level. In terms of renal function, GA decreased serum urea level but the effect was not sustained after the first month. CONCLUSION: GA may alter the disease severity in SCA as demonstrated by its ability to decrease direct bilirubin and urea levels in the serum.
Acacia ; Alanine Transaminase ; Anemia, Hemolytic ; Anemia, Sickle Cell ; Animals ; Aspartate Aminotransferases ; Bilirubin ; Cardiotoxicity ; Creatinine ; Electrolytes ; Erythrocytes ; Ethics Committees, Research ; Exudates and Transudates ; Gingiva ; Gum Arabic ; Hemoglobin, Sickle ; Humans ; Liver ; Rats ; Senegal ; Trees ; Urea ; Uric Acid

BACKGROUND: Arterial jugular bulb oxygen content differences (AJVDO2) can be related to cerebral blood flow and oxygen consumption. Plasma Hb has been reported to have both-sided effect on AJVDO2. Increased Hb increases oxygen content in artery and jugular bulb, and the net effect is to reduce AJVDO2. Moreover, increasing Hb raises blood viscosity, and could increase AJVDO2. This study was designed to discriminate the Hb-effects on AJVDO2 mathematically. METHODS: Sixty adults were enrolled in this study. General anesthesia and mechanical ventilation were administered. A normocapnic and a subsequent hypocapnic state were achieved. Paired data including 1/AJVDO2, PaCO2, Hb, mean arterial pressure, temperature and anesthetic concentration were recorded during each state. Nonlinear mixed-effects model was applied to fit 1/AJVDO2 using PaCO2 and Hb as covariates. RESULTS: The 1/AJVDO2 was well modeled by PaCO2 and Hb using a three-parameter logistic function: predicted 1/AJv DO2 = 0.38713 / 1+e(31.20981-PaCO2)/25.94210-1.45162xHb The increase in PaCO2 raised the 1/AJVDO2 sigmoidally (P < 0.0001) and its slope was affected by Hb (P = 0.0022). The transition point of the Hb-effect was PaCO2 = 31.20981 (SEM 1.519201). Intraclass correlation coefficient was estimated at 0.9973. CONCLUSIONS: Our finding suggests that the Hb-effect on 1/AJVDO2 is both-sided; the viscosity-effect is dominant at low levels of PaCO2 and effect of oxygen content is dominant at high levels of PaCO2
Adult ; Anesthesia, General ; Arterial Pressure ; Arteries ; Blood Viscosity ; Carbon ; Carbon Dioxide ; Colon, Sigmoid ; Discrimination (Psychology) ; Hemoglobin, Sickle ; Hemoglobins ; Humans ; Oxygen ; Oxygen Consumption ; Plasma ; Respiration, Artificial