• Health disparities
• Indian tribes
• Indigenous community
• Primitive tribal group (PTG)
• Tribal health
• Tribes of odisha

• Humans
• India
• Vulnerable Populations
• Health Status
• Nutritional Status
• Female
• Male
• Population Groups/statistics & numerical data
• Indigenous Peoples
• Health Status Disparities
• Socioeconomic Factors

• Beta-thalassemia
• HPLC
• NESTROFT
• RBC indices
• Tamil Nadu
• tribes

• Beta thalassaemia
• India
• Meta-analysis
• Prevalence
• Review

• INSPIRE Fellowship Department of Science and Technology, Ministry of Science and Technology, India

• Plasmodium falciparum
• malaria
• sickle cell
• α+ thalassemia

• G6PD
• Malaria
• Odisha
• PVTG
• Sickle cell anaemia
• Thalassaemia

• Humans
• Glucosephosphate Dehydrogenase Deficiency/epidemiology
• Glucosephosphate Dehydrogenase Deficiency/genetics
• beta-Thalassemia
• alpha-Thalassemia/epidemiology
• alpha-Thalassemia/genetics
• Cross-Sectional Studies
• Hemoglobinopathies/epidemiology
• Hemoglobinopathies/genetics
• Malaria/epidemiology
• Malaria/genetics
• Anemia, Sickle Cell/epidemiology

• CSS2017-18 government of Odisha

• Hb S/Hb E (HBB: c.20A>T/HBB: c.79G>A)
• sickle cell disease
• α-Thalassemia (α-thal)
• β-globin gene cluster

Erythropoietin (EPO) is the main mediator of erythropoiesis and an important tissue protective hormone that appears to mediate an ancestral neuroprotective innate immune response mechanism at an early age. When the young brain is threatened-prematurity, neonatal hyperbilirubinemia, malaria- EPO is hyper-secreted disproportionately to any concurrent anemic stimuli. Under eons of severe malarial selection pressure, neuroprotective EPO augmenting genetic determinants such as the various hemoglobinopathies, and the angiotensin converting enzyme (ACE) I/D polymorphism, have been positively selected. When malarial and other cerebral threats abate and the young child survives to adulthood, EPO subsides. Sustained high ACE and angiotensin II (Ang II) levels through the ACE D allele in adulthood may then become detrimental as witnessed by epidemiological studies. The ubiquitous renin angiotensin system (RAS) influences the α-klotho/fibroblast growth factor 23 (FGF23) circuitry, and both are interconnected with EPO. Here we propose that at a young age, EPO augmenting genetic determinants through ACE D allele elevated Ang II levels in some or HbE/beta thalassemia in others would increase EPO levels and shield against coronavirus disease 2019, akin to protection from malaria and dengue fever. Human evolution may use ACE2 as a “bait” for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) to gain cellular entry in order to trigger an ACE/ACE2 imbalance and stimulate EPO hypersecretion using tissue RAS, uncoupled from hemoglobin levels. In subjects without EPO augmenting genetic determinants at any age, ACE2 binding and internalization upon SARS-CoV-2 entry would trigger an ACE/ACE2 imbalance, and Ang II oversecretion leading to protective EPO stimulation. In children, low nasal ACE2 Levels would beneficially augment this imbalance, especially for those without protective genetic determinants. On the other hand, in predisposed adults with the ACE D allele, ACE/ACE2 imbalance, may lead to uncontrolled RAS overactivity and an Ang II induced proinflammatory state and immune dysregulation, with interleukin 6 (IL-6), plasminogen activator inhibitor, and FGF23 elevations. IL-6 induced EPO suppression, aggravated through co-morbidities such as hypertension, diabetes, obesity, and RAS pharmacological interventions may potentially lead to acute respiratory distress syndrome, cytokine storm and/or autoimmunity. HbE/beta thalassemia carriers would enjoy protection at any age as their EPO stimulation is uncoupled from the RAS system. The timely use of rhEPO, EPO analogs, acetylsalicylic acid, bioactive lipids, or FGF23 antagonists in genetically predisposed individuals may counteract those detrimental effects.

• Erythropoietin
• Angiotensin converting enzyme
• Angiotensin II
• Hemoglobinopathy
• Malaria
• Coronavirus disease 2019
• Fibroblast growth factor 23

• Moraxella
• Staphyloccus aureus
• allergic rhinitis
• asthma
• health disparities
• immune response
• microbial dysbiosis
• nasal microbiome
• neurological disease
• race or ethnicity

• U54MD007586 NIH HHS
• U54MD007593 NIH HHS
• U24 MD015970 NIMHD NIH HHS
• S21MD000104 NIH HHS
• R01 GM067871-17 NIH HHS

• Haptoglobin (Hp)
• sickle cell anemia
• vaso-occlusive crisis (VOC)

• Anemia;
• India
• sickle cell disease;
• thalassemia;
• tribes;

• Beta 2-adrenergic receptors (β2-AR)
• Cyclic adenosine monophosphate (cAMP)
• Sickle cell disease (SCD)
• Single-nucleotide polymorphisms (SNPs)
• Vaso-occlusive crisis (VOC)

• Metabolic
• stunted
• thalassemia
• undernutrition

• Acute pain episodes
• cyclic adenosine monophosphate (cAMP)
• epinephrine
• sickle cell disease
• vaso-occlusive crisis (VOC)

• Hb S/Hb Westdale
• Hb S/β -thalassemia (Hb S/β-thal)
• XmnI polymorphism
• sickle cell disease
• α-Thalassemia (α -thal)
• β-globin gene sequencing

• China
• Southeast Asia
• comparison
• gene mutation
• thalassemia

• Asia, Southeastern
• China
• Humans
• Mutation Rate
• Thalassemia/epidemiology
• Thalassemia/genetics
• alpha-Globins/genetics
• beta-Globins/genetics

• Acute pain episodes
• Alpha thalassemia
• Fetal hemoglobin
• Sickle cell disease

• Anemia
• Mortality
• Plasmodium falciparum
• Severe malaria
• Sickle cell gene

Others have described a relationship between hemoglobin A levels and gestational age, gender and ethnicity. However, studies are needed to determine normal cut-off points considering these factors. To address this issue we designed a study to determine the percentiles of normality of neonatal hemoglobin A levels taking these factors into account.

This cross-sectional study involved 16,025 samples for sickle cell disease screening in the province of Alicante, Spain, which has a high immigration rate. The primary variable was hemoglobin A, and the secondary variables were gender, gestational age (preterm and full term) and maternal origin (Spain, the rest of Europe, North Africa, Sub-Saharan Africa, Latin America and Asia). Percentiles of normality (1 and 99) were obtained by origin, gender and gestational age using quantile regression models and bootstrap samples. The association between these percentiles of normality and altered levels (≥1%) of hemoglobin E was analyzed. We obtained the percentiles of normality (1 and 99) for each maternal origin, gender and gestational age.

Of a total of 88 possible E carriers, 65 had above-normal hemoglobin A levels (74%). The levels of normality for hemoglobin A varied greatly according to the maternal origin and gestational age.

With the levels of normality that we established it is possible to discard samples with unrecorded blood transfusions. Our methodology could be applied to other diseases in the neonatal screening.

Aims: DNA-based carrier screening is a standard component of donor eligibility protocols practiced by U.S. sperm banks. Applicants who test positive for carrying a recessive disease mutation are typically disqualified. The aim of our study was to examine the utility of a range of screening panels adopted by the industry and the effectiveness of the screening paradigm in reducing a future child's risk of inheriting disease. Methods: A cohort of 27 donor applicants, who tested negative on an initial cystic fibrosis carrier test, was further screened with three expanded commercial carrier testing panels. These results were then compared to a systematic analysis of the applicants' DNA using next-generation sequencing (NGS) data. Results: The carrier panels detected serious pediatric disease mutations in one, four, or six donor applicants. Because each panel screens distinct regions of the genome, no single donor was uniformly identified as carrier positive by all three panels. In contrast, systematic NGS analysis identified all donors as carriers of one or more mutations associated with severe monogenic pediatric disease. These included 30 variants classified as “pathogenic” based on clinical observation and 66 with a high likelihood of causing gene dysfunction. Conclusion: Despite tremendous advances in variant identification, understanding, and analysis, the vast majority of disease-causing mutation combinations remain undetected by commercial carrier screening panels, which cover a narrow, and often distinct, subset of genes and mutations. The biological reality is that all donors and recipients carry serious recessive disease mutations. This challenges the utility of any screening protocol that anchors donor eligibility to carrier status. A more effective approach to reducing recessive disease risk would consider joint comprehensive analysis of both donor and recipient disease mutations. This type of high-resolution recessive disease risk analysis is now available and affordable, but industry practice must be modified to incorporate its use.

• Anemia, Sickle Cell/blood
• Anemia, Sickle Cell/epidemiology
• Anemia, Sickle Cell/genetics
• Genetic Testing
• Haplotypes
• Hemoglobin, Sickle/genetics
• Humans
• India
• Mutation

• Alpha thalassemia
• HPFH
• Haemoglobin

Although several studies have supported that sickle cell trait (HbAS) protects against falciparum malaria, the exact mechanism by which sickle gene confers protection is unclear. Further, there is no information on the influence of the sickle gene on the parasitic diversity of P. falciparum population in severe symptomatic malaria. This study was undertaken to assess the effect of the sickle gene on the parasite densities and diversities in hospitalized adult patients with severe falciparum malaria. The study was carried out in 166 adults hospitalized subjects with severe falciparum malaria at Sickle Cell Clinic and Molecular Biology Laboratory, Veer Surendra Sai Institute of Medical Sciences and Research, Burla, Odisha, India. They were divided into three groups on the basis of hemoglobin variants HbAA (n=104), HbAS (n=30) and HbSS (n=32). The msp-1 loci were genotyped using a PCR-based methodology. The parasite densities were significantly high in HbAA compared to HbAS and HbSS. The multiplicity of infection (MOI) and multi-clonality for msp-1 were significantly low in HbSS and HbAS compared to HbAA. The prevalence of K1 (p<0 .0001) and MAD20 (p=0.0003) alleles were significantly high in HbAA. The RO33 allele was detected at a higher frequency in HbSS and HbAS, compared to K1 and MAD20. Sickle gene was found to reduce both the parasite densities and diversity of P. falciparum in adults with severe malaria.

• Area specific
• Cord blood screening
• District hospital
• Sickle cell