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Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia.

INTRODUCTION: Fetal hemoglobin is an important factor in modulating the severity of sickle cell anemia. Its level in peripheral blood underlies strong genetic determination. Associated loci with increased levels of fetal hemoglobin display population-specific allele frequencies. OBJECTIVE: We investigated the presence and effect of known common genetic variants promoting fetal hemoglobin persistence (rs11886868, rs9399137, rs4895441, and rs7482144) in 60 Colombian patients with sickle cell anemia. MATERIALS AND METHODS: Four single nucleotide polymorphisms (SNP) were genotyped by restriction

Ethnic differences in reactions to drugs and xenobiotics. Susceptibility to occupational and environmental exposures to chemicals.

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Pregnancy Outcomes Among Women With Sickle Cell Disease in Bahrain: A Case-Control Study.

Objectives The study sought to evaluate and compare the maternal and fetal outcomes of pregnancy in women with sickle cell disease (SCD) versus healthy pregnant women in Bahrain. The objective was to update the available data in order to come up with a strategy to implement a multidisciplinary management program, which will enhance pregnancy outcomes for the SCD patient population. Materials and methods This retrospective case-control study was conducted in the Obstetrics and Gynecology Department at Salmaniya Medical Complex (SMC) in Bahrain. The study group consisted of all pregnant women wi

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

BACKGROUND: Reaching a precise diagnosis in rare inherited anemia is extremely difficult and challenging, especially in areas with limited u … emia (IRIDA), membrane defects, sideroblastic anemia, hypo-transferrinemia, a combined diagnosis of sickle cell trait and pyropoikilocytosis. The diagnoses also showed a combined diagnosis of hereditary spherocytosis (HS) and alpha thalassemia minor, and a combined diagnosis of iron deficiency anemia and beta thalassemia minor, while 15 % remained undiagnosed. In t …

Association between BCL11A, HSB1L-MYB, and XmnI γG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.

Sickle cell disease (SCD) is a monogenic disease characterized by multisystem morbidity and highly variable clinical course. Inter-individual variability in hemoglobin F (HbF) levels is one of the main modifiers that account for the clinical heterogeneity in SCD. HbF levels are affected by, among other factors, single nucleotide polymorphisms (SNPs) at the BCL11A gene and the HBS1L-MYB intergenic region and Xmn1 gene. Our aim was to investigate HbF-enhancer haplotypes at these loci to obtain a first overview of the genetic situation of SCD patients in Egypt and its impact on the severity of th

Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon.

We aimed to investigate the clinical and genetic predictors of painful vaso-occlusive crises (VOC) in sickle cell disease (SCD) in Cameroon. Socio-demographics, clinical variables/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain-related genes, three fetal haemoglobin (HbF)-promoting loci, two kidney dysfunctions-related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R® . A total of 436 hydoxycarbamide- and opioid-naïve patients were studied; median age was 16 years. Female sex, body mass index, Hb

D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.

OBJECTIVE: Plasma levels of the fibrinogen degradation product D-dimer are higher among African Americans (AAs) compared with those of European ancestry and higher among women compared with men. Among AAs, little is known of the genetic architecture of D-dimer or the relationship of D-dimer to incident cardiovascular disease. APPROACH AND RESULTS: We measured baseline D-dimer in 4163 AAs aged 21 to 93 years from the prospective JHS (Jackson Heart Study) cohort and assessed association with incident cardiovascular disease events. In participants with whole genome sequencing data (n=2980), we e

The significance of glucose-6-phosphate dehydrogenase deficiency in pregnancy.

A study was undertaken to attempt to understand the significance of glucose-6-phosphate dehydrogenase deficiency, one of the most common genetic enzymatic defects known, in the context of pregnancy. A group of 841 consecutive patients were screened by a sensitive test for this deficiency state, and all deficient subjects available were matched with control subjects and followed prospectively. Little significance to mother and baby was noted, although the study of the babies was incomplete. Previous reports of an increased rate of urinary tract infections and icterus neonatorum were not substan

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Background: Haemoglobinopathies such as beta-thalassemia (β-thal), alpha-thalassemia (α-thal) and sickle cell disease (SCD) are characterised by pathogenic gene variations (mutations) in the globin genes. Patients with haemoglobinopathies have the same disease-causing coding variations with very different disease phenotypes, from requiring blood transfusions to being non-symptomatic. The gap between the expected clinical outcomes based on primary coding mutations (the genotype) and the actual observed symptoms (the phenotype) often remains unexplained. We refer to the contribution of secondary

Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study.

BACKGROUND: Human genetic factors are important determinants of malaria risk. We investigated associations between multiple candidate polymorphisms-many related to the structure or function of red blood cells-and risk for severe Plasmodium falciparum malaria and its specific phenotypes, including cerebral malaria, severe malaria anaemia, and respiratory distress. METHODS: We did a case-control study in Kilifi County, Kenya. We recruited as cases children presenting with severe malaria to the high-dependency ward of Kilifi County Hospital. We included as controls infants born in the local comm

Determinants of Acute Kidney Injury in Children With Nephrotic Syndrome: A Prospective Observational Study.

Background Nephrotic syndrome (NS) is a common renal ailment among children, typically manifesting as a relapsing-remitting pattern. Most of … at admission, with the majority having stage 1 hypertension (38.46%). Only six (10.5%) children had sickle cell trait, and all developed AKI during follow-up. Forty-two (73.68%) children had nephrotoxic drug exposure, with the most common drug being enalapril, followed by nephrotoxic antibiotics. Out of 10 children with AKI who underwent renal biopsy, focal segment …

Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease.

Recent advances in genetics of renal disease have deepened our understanding of progressive kidney disease. Here, we review genetic variants that are of particular importance to progressive glomerular disease that result in end-stage kidney disease (ESKD). Some of the most striking findings relate to APOL1 genetic variants, seen exclusively in individuals of sub-Saharan African descent, that create a predisposition to particular renal disorders, including focal segmental glomerulosclerosis and arterionephrosclerosis. We also review the genetics of cardiovascular disease in ESKD and note that l

The paradoxical relationship between ligamentum flavum hypertrophy and developmental lumbar spinal stenosis.

Genomic sequencing of worldwide butterfly fauna followed by phylogenetic analysis of protein-coding genes informs butterfly classification throughout the taxonomic hierarchy, from families to species. As a rule, we attribute the same taxonomic rank to more prominent clades of comparable divergence (i.e., at the same level in the tree). For species delimitation, we use criteria based on relative genetic differentiation and the extent of gene exchange between populations. We analyze the current taxonomic classification of butterflies in the light of genomic phylogenies and encounter clades that

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… The sickle-cell trait is known to be widespread, reaching its highest prevalence in parts of Africa as well as among people with origins in equatorial Africa. … Glucose-6-phosphate dehydrogenase (G6pd) deficiency and sickle cell trait among blood donors in Nigeria. Am J Pub Health Res. 2014;2(2):51–5. 30. …

Management of Hodgkin Lymphoma in a Sickle Cell Patient: A Case Report.

Sickle cell disease (SCD) is an inherited disorder of hemoglobin mutation in red blood cells, with a patient population that is increasing in age in recent decades due to advances in modern medicine. Hodgkin's lymphoma (HL) is a cancer of white blood cells, and while concomitance of SCD and Hodgkin's has been reported, a discussion of treatment for HL in SCD is lacking from the literature. We present a case of effectively treated HL in SCD and put forth that the regimen used is a practical choice, and as it was completed fully as outpatient, it improved the patient's quality of life compared t

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… A case has been reported wherein a patient with sickle cell trait developed sickle cell crises after receiving Neulasta in conjunction with chemotherapy for breast cancer [ 12 ]. … References 1 Elguero E Lucrèce M “Malaria selects for sickle cell trait in Gabon” Proceedings of the National Academy of Sciences 2015 5 201505665 2 Piel FB Steinberg MH Rees DC Sickle Cell Disease N Engl J Med 2017 4 376 (16) 1561 73 28423290 10.1056/NEJMra1510865 3 Sebastiani P Nolan VG Baldwin …

The 4th Global Congress on Sickle Cell Disease Abstract Book 2022

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Hemoglobin SS Nigerian Woman First Diagnosed at the Age of 52 years with Manifestation Mimicking Tuberculosis of the Spine.

Sickle cell anemia (SCA) is an inherited disorder of hemoglobin due to the presence of abnormal hemoglobin in a homozygous state. Manifestation is usually in infancy or early childhood due to gradual decrease in hemoglobin F level as age advances. Diagnosis in middle age is unusual. We present a woman who was diagnosed of SCA for the first time at middle age. The aim was to bring to the knowledge of physicians that patients with SCA can also present late so high index of suspicion is required to make diagnosis. A 52-year-old woman presented to orthopedic clinic with complaints of generalized b

Mandibular Radiographic Assessment in Sickle Cell Disease: A Systematic Review of Radiomorphometric Indices and Fractal Dimension.

AIM: This systematic review aimed to investigate the association between sickle cell disease (SCD) and reduced bone mineral density (BMD) using radiomorphometric indices (RMI) and fractal dimension analysis (FDA) on dental radiographic images. METHODS AND RESULTS: Observational studies evaluating BMD in individuals with SCD through RMI or FDA were included. A comprehensive search was conducted across six databases and grey literature in March 2025. Risk of bias was evaluated using the Joanna Briggs Institute Critical Appraisal Tool for cross-sectional studies, and certainty of the evidence wa

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… Individuals who inherit one normal and one mutated allele are carriers of the sickle cell trait and are usually asymptomatic. In contrast, those who inherit two mutated alleles (such as in Hb SS, Hb SC, or Hb S–β‐thalassemia) develop sickle cell anemia [ 2 ]. … The search strategy included words related to “anemia, sickle cell,” “hemoglobin SC disease,” “sickle cell trait,” “jaw,” “mandibular cortical index,” and “fractal,” combined with Boolean operators AND/OR, without language or date restrictions (Supplementary 1 ). …

The Evolving Pharmacotherapeutic Landscape for the Treatment of Sickle Cell Disease.

Sickle cell disease (SCD) is an extremely heterogeneous disease that has been associated with global morbidity and early mortality. More effective and inexpensive therapies are needed. During the last five years, the landscape of the pharmacotherapy of SCD has changed dramatically. Currently, 54 drugs have been used or under consideration to use for the treatment of SCD. These fall into 3 categories: the first category includes the four drugs (Hydroxyurea, L-Glutamine, Crizanlizumab tmca and Voxelotor) that have been approved by the United States Food and Drug Administration (FDA) based on suc

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… The World Health Organization has estimated that each year 220,000 babies are born with SCD in Africa, and that SCD accounts for up to 16% of deaths of children aged < 5 years in some African countries. 2 , 3 The reported prevalence of the sickle cell trait in African Americans varies from 6.7 to 10.1% … and in Africans the range is from 10 to 40% across equatorial Africa and decreases to between 1 and 2% on the North African coast and < 1% in South Africa. 4 – 6 The prevalence of the sickle cell trait varies widely worldwide and may be as high as 50% in certain regions. 6 – 8 The prevalence of SCA …

Haematological Diseases in the Tropics

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… Sickle Cell Trait Individuals with sickle cell trait (Hb AS) have 10-fold protection against severe malaria compared to individuals with normal haemoglobin (HbAA) probably due to both innate and immune-mediated mechanisms. … Individuals with sickle cell trait (HbAS) are generally asymptomatic and they have a normal haemoglobin and normal life expectancy. …

Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review.

BACKGROUND: Individuals with thalassemia or sickle cell disease (SCD) are at an elevated risk of developing cancer, yet the full extent of this risk remains inadequately characterised. METHODS: We conducted a systematic review using three databases (MEDLINE, EMBASE and Scopus) to compare the cancer risk in patients with thalassemia and SCD with that of the general population. Secondly, we assessed the impact of other putative risk factors in patients with thalassemia and SCD on cancer risk. RESULTS: Five studies from four countries were included, encompassing a total of 24,439 individuals ov

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… . | Studies on heterozygous patients (i.e. sickle cell trait or thalassemia trait). C- Comparison | General population (Non-thalassemic or non-SCD- populations). | Studies with no control group reported. O- Outcome | Primary outcome: incidence/prevalence of solid or hematological malignancies. …