BACKGROUND: Sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal haemoglobin (Hb), called Hb S. In all forms of SCD, at least one of the two abnormal genes causes a person's body to make Hb S. In countries with limited resources, diagnostic technique should be simple and easy to perform with high sensitivity and specificity. METHODS: This study compared the paperbased sickle cell test and sodium metabisulfite sickling test using Hb electrophoresis as a gold standard. It was a crosssectional hospitalbased study which was conducted from July to October 2017 involving a total of 140 blood samples of under 10 years children presumed to have SCD. Blood samples in ethylenediaminetetraacetic acid anticoagulantcontaining vacutainers were used for SCD diagnosis by using paperbased and sodium metabisulfite sickling tests then confirmed by Hb electrophoresis as the gold standard. RESULTS: Blood specimens were from individuals aged 4 years ranged from 2 to 9 years. Slightly majority of blood specimens belonged to males, 54.3% (76/140) while the majority was from inpatients, 82.9% (116/140). Paperbased sickle cell test identified 46/140 (32.9%) Hb AA, 81/140 (57.9%) Hb, and 6/140 (4.3%) Hb AS. Sickling test identified 50/140 (35.7%) Hb AA and 87/140 (62.1%) Hb SS. Hb electrophoresis identified 50/140 (35.7%) Hb AA, 83/140 (59.3%) Hb SS, and 7/140 (5%) Hb AS. The paperbased sickle cell test had a sensitivity of 97.8% and specificity of 96.7% while the sickling test had the sensitivity of 96.7% and specificity of 100%. CONCLUSION: Paperbased sickle cell test was able to detect sickle cell carriers, Hb AS and shown high sensitivity and specificity; therefore, it can be used as a substitute for sickling test in countries with limited resource. However, paperbased sickle test is suitable for adults' population.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

INTRODUCTION: Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon disease. Many cases go undiagnosed as high index of clinical suspicion is required for its detection. This study was performed to detect the presence of PNH defect by flow cytometric immunophenotyping (FCMI) in patients with suspected PNH disease and evaluate their clinical and laboratory profile. MATERIALS AND METHODS: In this retrospective study, a total of 136 patients with suspected PNH who fulfilled the inclusion criteria for the study were evaluated for PNH defect by FCMI using monoclonal antibodies against CD55 and CD59 on red blood cell, granulocytes, and monocytes. RESULTS: Forty-eight (35.3%) of 136 patients evaluated had a PNH defect. Nineteen (39.5%) of these 48 patients had classical PNH (hemolytic type). The remaining 29 patients had PNH Clone in association with aplastic anemia. The clinical and laboratory data of these 19 patients with classical PNH were analyzed in this retrospective study. The median age was 34 years (range: 19–65 years). Thrombotic events were observed in 3 (16%) of the 19 cases (one each with Budd–Chiari syndrome, cerebral venous thrombosis, and abdominal vein thrombosis). The flow cytometric data of these patients were further analyzed for the presence of and size of PNH clone on erythrocytes, granulocytes, and monocytes. PNH clone was detected in 84% of erythrocytes, 76.9 % of monocytes and in 100% granulocytes. CONCLUSION: Classical PNH is not rare in India as previously thought. A high index of clinical suspicions and evaluation by FCMI is necessary for its detection. CD59 is a better marker for identification of PNH clone than CD55 in all three cell types.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

BACKGROUND/PURPOSE: B-cell-chronic lymphocytic leukemia (B-CLL) is the most common leukemia in the Western world and shows a remarkable heterogeneity in the clinical course. Understanding the genetic basis of B-cell-CLL may help in clarifying the molecular bases of this clinical heterogeneity. Recurrent chromosomal aberrations at 13q14, 12q15, 11q22-q23 and 17p13, and TP53 mutations are the first genetic lesions identified as drivers of the disease. While some of these lesions are associated with poor outcome (17p13 deletion, TP53 mutations and to a lesser extent, 11q22-q23 deletion), others are linked to a favorable course (13q14 deletion as sole aberration). This study evaluates the frequency of each chromosomal abnormality using fluorescence in situ hybridization (FISH) Panel at our institution with comparison to other international studies. MATERIALS AND METHODS: We reviewed 147 peripheral blood and bone marrow samples which represent all B-cell-CLL cases diagnosed at our hospital from 2012 to 2016 by morphology and flow cytometry immunophenotyping followed by specific B-cell-CLL-FISH panel including MDM2/Cen12 for Trisomy 12, 13q14 (D13S319)/13q34 deletion, ATM (11q22.3) deletion, P53(17p13.1) deletion, and CCND1/IGH translocation (11;14). RESULTS: Between 2012 and 2016, a total of 147 B-cell-CLL patients were investigated using B-cell-CLL-FISH panel at our institution King Faisal Specialist Hospital and Research Center-Riyadh, Kingdom of Saudi Arabia, with age ranging between 36 and 89 years and a median age of 62 years. The majority of the patients with the abnormal FISH pattern, 70% (73/105), had a single abnormality with the remaining 30% (32/105) showed more than one genetic abnormality including two cases where all five probes were positive. CONCLUSION: The heterogeneous clinical course of B-CLL is likely explained by underlying molecular prognostic factors including data from FISH probes. Moving forward, analyzing these factors at diagnosis is recommended for better prognostication and outcome of the disease.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Patients with thalassemia are known to have an increased risk of immune-mediated illness. This increased risk may be due to a genetic predisposition or underlying immunological abnormalities. The clinical presentation of these immune-mediated illnesses may vary in these patients as compared to those without thalassemia. We report an 8-year-old boy with thalassemia major who presented to us with fever, arthritis, and hepatosplenomegaly. He was diagnosed to have systemic-onset juvenile idiopathic arthritis (SOJIA) and started on treatment. Although there have been reports of rheumatoid arthritis in patients with thalassemia, there are none on SOJIA in thalassemia. The possibility of systemic-onset juvenile arthritis should be considered in a child with thalassemia presenting with fever and arthritis, and the management should be instituted accordingly.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

BACKGROUND: Thousands of pregnant women are infected with human immunodeficiency virus (HIV) and some of them take antiretroviral therapy (ART) either for their own health or as a means of preventing mother-to-child transmission. This entails fetal exposure to drugs with attendant effect on hematological parameters. AIMS: The aim of this study is to determine the effect of maternal HIV and ART on hematological profile of newborns. SETTINGS AND DESIGN: Comparative cross-sectional study involving 70 each of HIV- and ART-exposed and HIV- and ART-unexposed newborns at Aminu Kano Teaching Hospital, Kano, Nigeria. SUBJECTS AND METHODS: Cord blood was collected for hemogram, reticulocyte count, and erythrocyte sedimentation rate. STATISTICAL ANALYSIS USED: Data were analyzed using SPSS version 20 and P < 0.05 was considered statistically significant. RESULTS: The mean hematocrit, platelet, and reticulocyte counts of the HIV-exposed newborns were significantly lower than those of HIV-unexposed (P < 0.05). Among HIV-exposed newborns, newborns of mothers with CD4⁺ T-cell <350/μl had significantly lower hematological parameters than those of mothers with CD4⁺ T-cell ≥350/μl (P < 0.05). Furthermore, HIV-exposed newborns of mothers on second-line ART had significantly lower hematological parameters than HIV-exposed newborns of mothers on the first-line ART (P < 0.05). There was positive correlation between maternal CD4⁺ T-cell count and newborns' hematocrit (r = 0.71), platelet count (r = 0.54), and reticulocyte count (r = 0.63). CONCLUSIONS: Newborns exposed to maternal HIV and ART had lower hematological parameters than HIV-unexposed newborns and maternal CD4⁺ T-cell count <350/μl and second-line ART were significantly associated with lower hematological parameters.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy representing <10% of HUS cases, characterized by hemolytic anemia, thrombocytopenia, and renal failure. A 5-month-old baby girl, the daughter of Saudi nonconsanguineous parents, presented with fever, vomiting, and watery diarrhea when she was admitted as a case of gastroenteritis. The laboratory results showed high urea (10.2 mmol/L) and creatinine (134 μmol/L) as well as low hemoglobin (4.5 g/dL) and a low platelet count (81 × 10⁹/L) with a normal coagulation profile. Blood, urine, and stool cultures were all negative for bacterial growth. Despite the lack of strong indicators of aHUS, the patient received 4 weekly cycles of eculizumab in the induction phase (300 mg/m²/dose intravenously over 2 h) based on the clinical emergence diagnosis. She showed dramatic improvements in clinical and laboratory parameters and was taken off peritoneal dialysis. Molecular tests confirmed our clinical diagnosis and revealed a rare heterozygous missense variant of the C3 gene, c.3343G>A, p.(Asp1115Asn). The early recognition and administration of eculizumab are a lifesaving measure. C3 gene mutations are an autosomal dominant inherited pattern, with 50% risk of inheriting this mutation. Therefore, genetic counseling and family member testing are recommended.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]