Presence Of Hemoglobinopathies Research Articles

Prevalence of SARS-CoV-2 in hemoglobinopathies is modified by age and race

Prior literature has established a positive association between sickle cell disease and risk of contracting SARS-CoV-2. Data from a cross-sectional study evaluating COVID-19 testing devices (n = 10,567) was used to examine the association between underlying health conditions and SARS-CoV-2 infection in an urban metropolis in the southern United States. Firth's logistic regression was used to fit the model predicting SARS-CoV-2 positivity using vaccine status and different medical conditions commonly associated with COVID-19. Another model using the same method was built using SARS-CoV-2 positivity as the outcome and hemoglobinopathy presence, age (<16 Years vs. ≥16 Years), race/ethnicity and comorbidities, including hemoglobinopathy, as the factors. Our first model showed a significant association between hemoglobinopathy and SARS-CoV-2 infection (OR: 2.28, 95 % CI: (1.17,4.35), P = 0.016). However, in the second model, this association was not maintained (OR: 1.35, 95 % CI: (0.72,2.50), P = 0.344). We conclude that the association between SARS-CoV-2 positivity and presence of hemoglobinopathies like sickle cell disease is confounded by race, age, and comorbidity status. Our results illuminate previous findings by identifying underlying clinical/demographic factors that confound the reported association between hemoglobinopathies and SARS-CoV-2. These findings demonstrate how social determinants of health may influence disease manifestations more than genetics alone.

Abstract C120: Are there racial disparities in the incidence of venous thromboembolism (VTE) in hospitalized cancer patients with COVID-19?

Abstract Background: Both cancer and COVID-19 have been reported to be associated with an increased risk of VTE. Severe disease needing hospitalization is also associated with an increased risk of VTE. There is a paucity of data evaluating the effects of race on this risk, with the limited available data suggesting that such a correlation exists. Given the increased prevalence of comorbidities and risk factors for VTE in African Americans (AA), we sought to evaluate if there are racial disparities in the incidence of VTE in the hospitalized subset of COVID-19 patients with cancer. Methods: This was a retrospective chart review of unvaccinated cancer patients hospitalized with COVID-19 at a major tertiary health facility. Only cancer patients who were on active systemic chemotherapy were included. The primary study outcomes were development of DVT or PE (VTE) within 30 days of COVID-19 diagnosis. Secondary outcomes included mortality, hospital length of stay, mechanical ventilation, ICU admission, and need for vasopressors. Mean and standard deviation were reported for continuous variables; proportions were reported for categorical variables. To compare between races, the Chi-square test was used for categorical variables and the t-test was used for continuous variables. Multivariable logistic regression was then conducted to assess the relationship between race and selected factors. All statistical tests were 2-sided with an α (significance) level of 0.05. Results: A total of 73 patients were included in our analysis. The median age of the cohort was 70 years (interquartile range [IQR] 64-79). Gender breakdown: 58.9% males, 41.1 females. 31.5% were Caucasian, 64.4% African American, 1.4% Hispanic, and 2.7% other races/ethnicities. There were 8 DVT/PE patients in the cohort. Of 23 Caucasians in our cohort, 3 (13.0%) had VTE. Of 47 African Americans, 5 (10.6%) had DVT/PE. There was no significant difference between the incidence of VTE and race (p &amp;gt; 0.05). Multivariable logistic regression did not show a significant relationship between race and VTE, controlling for age, ICU stay, intubation, vasopressor use, serum ferritin and serum IL-6 levels. Notably, all patients included in this study were on enoxaparin prophylaxis for VTE. The only variable associated with DVT/PE was age and the presence of hemoglobinopathy. Incidence of VTE was significantly associated with increasing age (p &amp;lt; 0.03) and the presence of hemoglobinopathy (p &amp;lt; 0.01). Hemoglobinopathy was only seen in AA cancer patients with VTE (n = 4), and none in Caucasian patients. Conclusions: Contrary to what has been reported in the literature, we did not detect racial disparity in the incidence of VTE in hospitalized cancer patients with COVID 19. Prophylactic anticoagulation likely had a protective effect. However, racial disparity was observed in AA cancer patients with hemoglobinopathy with increased VTE risk despite prophylactic anticoagulation. This warrants further evaluation in future studies Citation Format: Adnan Khan, Chun-Hui Lin, Sheela Tejwani. Are there racial disparities in the incidence of venous thromboembolism (VTE) in hospitalized cancer patients with COVID-19? [abstract]. In: Proceedings of the 15th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2022 Sep 16-19; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr C120.

Serum fructosamine and glycemic status in the presence of the sickle cell mutation

AimsThe glycated hemoglobin (HbA1c) test can be unreliable in the presence of hemoglobinopathies. The co-existence of type 2 diabetes (T2D) with sickle cell anemia calls for alternative tests. Therefore, we established a reference interval for serum fructosamine and evaluated its utility as a potential glycemic biomarker that is not affected by abnormal hemoglobin. MethodsThe accuracies of serum fructosamine in monitoring and diagnosing T2D were evaluated using the Area under the Receiver Operating Characteristics and other measures in 618 Nigerians with or without sickle cell trait. The estimated diagnostic cut-off for serum fructosamine was then validated in an independent multi-ethnic cohort of 634 West Africans. ResultsSerum fructosamine was similar between individuals with or without sickle cell trait (median: 287 vs 275 umol/L, p = 0·11, respectively) despite statistically different HbA1c. Fructosamine was highly correlated with both HbA1c and fasting glucose independently of sickle cell trait. The areas under the curve (AUC) of serum fructosamine in identifying individuals with uncontrolled glycemia and individuals with T2D were similar and independent of sickle cell trait: 0·92 (95% confidence interval [95% CI ], 0·88-0·95 and 0.92 (95% CI, (0.89–0.95) respectively. ConclusionsSerum fructosamine is a good alternative to HbA1c for monitoring and diagnosing T2D in the presence of sickle cell trait.

Serum Fructosamine is a Valid Measure of Glycemic Status in the Presence of the Sickle Cell Mutation

Background: The glycosylated hemoglobin (HbA1c) test can be unreliable in the presence of hemoglobinopathies and remains cost-prohibited and impractical in many developing countries. The increasing burden of type 2 diabetes (T2D) in sub-Saharan Africa (SSA) where sickle cell anemia, the most common inherited hemoglobinopathy, is prevalent calls for alternative tests for the management of T2D. In the present study, we evaluated the utility of serum fructosamine (FRA) as a biomarker of glycemic control that is not affected by abnormal hemoglobin or red blood cell (RBC) turnover. Methods: The accuracy of FRA in monitoring and diagnosing T2D was evaluated using the Area under the Receiver Operating Characteristics (AUROC) and other measures in a training dataset of 618 Nigerians [155 (25·1%) carrying sickle cell trait (HbAS) and 463 (74·9%) without sickle cell trait (HbAA)]. The FRA’s diagnostic cut-off was validated in an independent cohort of 634 West Africans. Findings: FRA was similar between HbAS and HbAA participants (Median = 287 vs 275 umol/L, p=0·11) despite statistically different HbA1c median among the two groups. FRA was highly correlated with both HbA1c (r HbAA = 0·80, r HbAS =0·82, p<0·001) and fasting glucose (FG) (r HbAA =0·72, r HbAS = 0·83, p<0·001) independent of sickle cell trait (SCT). With optimal thresholds of 352·5 umol/L and 309·5 umol/L, FRA had 81·5% [CI 95%:0·76-0·87] and 82·4%, [CI 95% 0·77-0·88] sensitivities and 97·4% [CI 95%:0·95-1·00] and 92·4% [95% CI 0·90-0·95] specificities for identifying individuals with controlled glycemic index and individuals with T2D respectively and independently of SCT. The diagnosis cut-off was validated in a multi-ethnic population with a good positive predictive value (94·6%). Interpretation: We showed that FRA is an effective alternative to HbA1c for monitoring and diagnosing T2D in populations where SCT is prevalent. Funding: National Institutes of Health. Conflict of Interest: The authors have no conflict of interest to disclose. Ethical Approval: The study protocol was approved by the institutional ethicsreview board (IRB) of the National Institutes of Health/National Human Genome Research Institute (protocol HG-09-N070) and the IRBs of each participating institution, including University of Lagos, Lagos, Nigeria; College of Medicine, University of Ibadan, Ibadan, Nigeria; University of Nigeria Teaching Hospital, Enugu, Nigeria; University of Science and Technology, Kumasi, Ghana; University of Ghana Medical School, Accra, Ghana. Written informed consent was obtained from each participant prior to enrollment.

SAT-208 An Adrenal Incidentaloma with Extramedullary Hematopoiesis

Introduction: Adrenal adenomas are incidentally noted during nonadrenal disease imaging at a rate up to 4%. Frequency of incidentalomas increases with age, most being adrenocortical adenomas. This case highlights an uncommon etiology of such an adrenal mass finding. Case Description: A 37-year-old with a history of hypertension, hypothyroidism, and tobacco use was admitted after post-operative complication. Prior to surgery, she had been experiencing right upper quadrant pain along with 70 lb weight loss and diarrhea. She otherwise had frequent palpitations. Patient had undergone cholecystectomy and common hepatic duct injury was noted. Imaging revealed a 5.3 x 3.5 cm right adrenal mass previously unknown prior to surgery. Hormonal workup was negative for overproduction of aldosterone, cortisol, DHEA-S or metanephrines. Discussion: Patient underwent successful resection of adrenal mass, revealing adrenal adenoma with osseous metaplasia and hematopoiesis. Extramedullary hematopoiesis is a usually discovered incidentally as in this case. Typical sites are the spleen and liver. Cases of adrenal gland manifestations have been reported in the presence of hemoglobinopathies (thalassemia, hereditary spherocytosis) or myelofibrosis. At four-month follow-up, laboratory testing on this patient didn’t suggest any erythrocytic or leukocytic disorder. Conclusion: This case highlights an uncommon finding of hematopoiesis in an adrenal incidentaloma without any underlying hematologic defect or disease.

Whole-blood PUFA and associations with markers of nutritional and health status in acutely malnourished children in Cambodia.

To measure fatty acid composition, particularly whole-blood PUFA content, in acutely malnourished children and identify associations with markers of nutritional and health status. PUFA were assessed in dried blood spots obtained from a cross-sectional study. Nutritional and health status were assessed by anthropometry, haemoglobinopathies, inflammation and blood counts. Cambodia. The study was conducted with 174 children aged 0·5-18 years with acute malnutrition. Among total fatty acids (FA), the relative percentage of total PUFA was 20 % FA, with 14 % of the children having very low PUFA (mead acid (MA):arachidonic acid (AA) >0·02, n-6 docosapentaenoic acid:DHA >0·2 and total n-6:n-3 PUFA >10·5). Wasting was not associated with any PUFA. Stunting and low height were consistently positively associated with total PUFA and positively with n-6 PUFA. Height was positively associated with n-3 long-chain PUFA (LCPUFA). The presence of haemoglobinopathies or inflammation was positively associated with MA:AA, but not total PUFA. Elevated blood platelet counts were positively correlated with linoleic acid and appeared to be influenced by anaemia (P = 0·010) and inflammation (P = 0·002). Monocyte counts were high during inflammation (P = 0·052) and correlated positively with n-6 LCPUFA and n-3 LCPUFA. Children with acute malnutrition or stunting had low PUFA, while elevated platelets and monocytes were associated with high PUFA. In acutely malnourished children, inflammation could lead to elevated blood cell counts resulting in increased whole-blood PUFA which does not reflect dietary intake or nutritional status.

Determinants of post-malarial anemia in African children treated with parenteral artesunate

The pathophysiology of malarial anemia is multifactorial and incompletely understood. We assessed mechanistic and risk factors for post-malarial anemia in Ghanaian and Gabonese children with severe P. falciparum malaria treated with parenteral artesunate followed by an oral artemisinin-combination therapy. We analyzed data from two independent studies in which children were followed on Days 7,14, and 28 after treatment with artesunate. Specific hematological parameters included the presence of hemoglobinopathies and erythropoietin. Presence of once-infected erythrocytes was assessed by flow cytometry in a sub-population. Of 143 children with a geometric mean parasitemia of 116,294/µL (95% CI: 95,574–141,505), 91 (88%) had anemia (Hb < 10 g/dL) at presentation. Hemoglobin increased after Day 7 correlating with increased erythropoiesis through adequate erythropoietin stimulation. 22 children (24%) remained anemic until Day 28. Post-artesunate delayed hemolysis was detected in 7 children (5%) with only minor differences in the dynamics of once-infected erythrocytes. Hyperparasitemia and hemoglobin at presentation were associated with anemia on Day 14. On Day 28 only lower hemoglobin at presentation was associated with anemia. Most children showed an adequate erythropoiesis and recovered from anemia within one month. Post-artesunate delayed hemolysis (PADH) and hyperparasitemia are associated with early malarial anemia and pre-existing anemia is the main determinant for prolonged anemia.

PF503 MIGRATION FLOWS, IRON DEFICIENCY AND ANAEMIA AMONG PREGNANT REFUGEES IN NORTHERN GREECE

Background:Iron deficiency anemia (IDA) is the most prevalent nutritional insufficiency worldwide. Greece has been an entry‐route to Europe due to its unique geographical position and accepts increasing number of refugees since 2015 because of the geopolitical changes in the nearby regionAims:The aim of the study was to determine the prevalence of iron deficiency with or without anemia in migrant pregnant women in the region of Macedonia in Northern Greece and the evaluation of the related epidemiological and biological factors.Methods:We performed a retrospective study for all the migrant pregnants referred at the Thalassaemia Prevention Unit of Hippokrateio Hospital of Thessaloniki within a four year period (2015–2018). Country of origin, gestation week at referral together with a full personal and family history were taken into consideration. The laboratory screening consisted of a full blood count, peripheral smear microscopy, ferritin levels, as well as high performance liquid chromatography (HPLC) and electrophoresis for the determination of haemoglobin variants Iron deficiency and IDA were defined according to WHO recommendationsResults:538 migrant pregnants with a median age of 28 (13–44) years were included in the analysis. Median haemoglobin levels and serum ferritin values were 11,6(7,3–15,5)gr/dl and 33,28 (2–305)ng/ml accordingly. Almost half (268) of the study population were referred during the second trimester of pregnancy, while 136 were in the first and 136 in the third trimester. 39% of the pregnants were of Balkan origin (Albania, Bulgaria, Serbia, Fyrom), 27% came from the former Soviet Union– Eurasia. 67 women were from the Middle East (Syria, Afghanistan, Iraq, Palestine, Kuwait, Iran), 32 from Africa (Ghana, Nigeria, Ethiopia, Senegal, Sudan, Congo), 14 from Central European countries and 7 from Asia (India, Philippines, Thailand, China). 10% of the pregnants were Roma. Overall 43% of the women were diagnosed with iron‐deficiency and 82 (15%) with anemia. 49 (9%) were found to be carriers of hereditary hemoglobinopathies. Both median haemoglobin level and iron‐deficiency and/or anemia were strongly correlated with the country of origin (p 0,001 and p 0,031/0,002) as well as the gestation trimester (&lt;0,000) and presence of hemoglobinopathy (p 0,005 and p 0,008/0,000). African women presented with the lowest median haemoglobin level while pregnants from Middle East, Asia, Balkans and Eurasia were following. Women from central Europe had the highest Hb values (10,9/11,1/11,4/11,7/11,8/12,2respectively). Median ferritin values were 20,7/24,7/32,5/38,5/45,9ng/dl for women from Middle East, Asia, Balkans, Eurasia and Central Europe accordingly. Of interest, pregnant Africans were found with the lowest Hb and the highest ferritin levels (47,2ng/dl) possibly due to the high incidence of hemoglobinopathies found in this ethnic population. 65% of pregnants from Middle East were diagnosed with iron‐deficiency whereas only 21% of those from Central Europe. Based on multivariate analysis the country of origin, the trimester of pregnancy and the hemoglobinopathy carrier status were independent risk factors related with iron deficiency and anemia.Summary/Conclusion:High incidence of iron‐deficiency/anemia in pregnancy was mainly found in pregnant refugees from Middle East reflecting probably the poor socio‐economic circumstances in the so called refugee hotspots, shedding light on the urgent need for medical as well as social interventions. The migration flows pose new challenges for the national health care systems worldwide

Interference of Thalassemias on Hemoglobin A1c Measurement by Ion-Exchange High-Performance Liquid Chromatography Method Tosoh HLC-723 G8

The presence of hemoglobinopathies could interfere with some assays for Hemoglobin A1c (HbA1c) measurement; therefore, the effect of thalassemia on ion-exchange high-performance liquid chromatography (IEHPLC) method Tosoh HLC-723 G8 (Tosoh G8) was evaluated. A total of 43 normal controls and 101 thalassemia patients were quantified by Premier Hb9210 and Tosoh G8 (variant-mode) systems. At the same time, 7 normal controls and 8 thalassemia patients were confirmed by the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) reference method for verification. For normal controls, the HbA1c values of Tosoh G8 system (y) showed great correlation and agreement with those from Premier Hb9210 (x) (y = 0.9688x + 0.2151, r = 0.9951; mean difference 0.02 ± 0.30%), and no significant relative bias above 7% was observed; the HbA1c values obtained by Tosoh G8 were consistent with the IFCC targets (relative bias < ± 6%) in all of the samples. However, for thalassemia, the correlation between Tosoh G8 (y) and Premier Hb9210 (x) became relatively low (y = 0.8079x + 1.2897, r = 0.7780); the HbA1c values of 91.1% of the samples (92/101) obtained by Tosoh G8 were higher than those by Premier Hb9210 (mean difference 0.33 ± 0.48%) and a significant positive bias above 7% was noticed in 43.3% (45/101) thalassemia patients; when compared with the IFCC targets, the 87.5% (7/8) relative bias was > ± 6%. Thalassemia could directly affect the measurement of HbA1c using the IE-HPLC method Tosoh G8 and the clinical laboratorial staff should pay close attention.

Pregnancy complications and perinatal outcomes of women with hemoglobinopathies

Objective: To estimate the prevalence of gestational complications and perinatal outcomes in women with and without hemoglobinopathies. Method: This is a cross-sectional study with a quantitative approach, performed from 110 medical records of pregnant women who underwent prenatal, childbirth, postpartum and perinatal care in a gynecology and obstetrics service of the University Hospital at the Federal University of Mato Grosso do Sul, Brazil, between 2010 and 2011. Results: Gestational complications in women with and without hemoglobinopathies in the variables: obstetric (preterm labor, pre-eclampsia, ruptured membranes for more than six hours (17.06 times; 12.19 times; 4.27 times respectively); clinical: urinary tract infection, heart failure, severe anemia (2.97 times; 12.6 times;&nbsp; 9.75 times, respectively), and perinatal: cesarean delivery, neonatal infection; the newborn in the neonatal intensive care unit; fetal death, stillbirth (1.57 times; 39.00 times; 12.19 times; 12.9 times; 9.75 times; respectively) were higher in the presence of hemoglobinopathies. Conclusion: The pregnancy outcomes of women with hemoglobinopathies, perinatal and their newborns showed a higher prevalence of complications than women without this change. Keywords: Hemoglobinopathies; Pregnancy Complications, Hematologic; Perinatal Care.

Cord Blood Screening of Haemoglobinopathies in the Newborn from North East India

Thalassaemia and haemoglobinopathies are major public health problems worldwide. Among them HbE is common in South East Asia, prevalence reaching up to 30–40%. In the present study, 117 (23.21%) babies out of 504 showed the presence of haemoglobinopathies with Haemoglobin E heterozygous being the commonest form. We emphasize the need for an appropriate screening strategy for early diagnosis.

Measurement of HbA1C: immunoassay vagaries associated with β-globin chain abnormalities

From November 2011, in line with the International Expert Committee, New Zealand Society for the Study of Diabetes has recommended the use of HbA1c as the diagnostic test for Diabetes.1 However, HbA1C values can be interfered by the presence of haemoglobinopathies, anaemias and pathological processes which affect the turnover rate of red blood cells.1 Capillarys Flex Piercing-2 measures HbA1C by separating different sub-fractions of haemoglobin according to their different electrophoretic mobility.2 The aim of this study was using values generated by Capillarys as a reference to evaluate the analytical performance of Advia 2400 and Integra 800. Over a period of 7 months a total of 294 EDTA samples with haemoglobinopathies were stored at –80 °C. These samples were run in three batches on Capillarys Flex Piercing, Advia 2400 and Interga 800. Statistical analysis of the data showed the results generated by Integra agree with those of Capillarys, while the results generated by Advia show systematic high bias. Both immunoassays provided results for some of the patients with homozygous β globin chain haemoglobinopathies, while Capillarys did not give any results as these patients do not have any HbA. The clinical significance of these findings is potentially serious. From November 2011, in line with the International Expert Committee, New Zealand Society for the Study of Diabetes has recommended the use of HbA1c as the diagnostic test for Diabetes.1 However, HbA1C values can be interfered by the presence of haemoglobinopathies, anaemias and pathological processes which affect the turnover rate of red blood cells.1 Capillarys Flex Piercing-2 measures HbA1C by separating different sub-fractions of haemoglobin according to their different electrophoretic mobility.2 The aim of this study was using values generated by Capillarys as a reference to evaluate the analytical performance of Advia 2400 and Integra 800. Over a period of 7 months a total of 294 EDTA samples with haemoglobinopathies were stored at –80 °C. These samples were run in three batches on Capillarys Flex Piercing, Advia 2400 and Interga 800. Statistical analysis of the data showed the results generated by Integra agree with those of Capillarys, while the results generated by Advia show systematic high bias. Both immunoassays provided results for some of the patients with homozygous β globin chain haemoglobinopathies, while Capillarys did not give any results as these patients do not have any HbA. The clinical significance of these findings is potentially serious.

Premarital screening of college students for carrier detection in thalassemia and sickle cell disease: need of the hour

Background: Hemoglobinopathies are a group of inherited conditions characterized by quantitative and qualitative abnormalities in the synthesis of hemoglobin. In India, the most prevalent hemoglobinopathies are thalassemia and sickle cell anemia. To reduce the burden of highly prevalent monogenic disorders, it is essential that disease progression be halted at the carrier stage. This can be done by carrier detection and genetic counseling in young individuals. In Central India, where prevalence of thalassemia and sickle cell anemia is high, premarital screening is being implemented for the first time in medical students for identification of asymptomatic carriers of these hemoglobinopathies and possible prevention of future high-risk marriages by genetic counseling. Objectives: The objectives of this study were to (1) determine the prevalence of asymptomatic carriers of sickle cell disease and thalassemia in first-year MBBS students; and (2) know the frequency of hemoglobinopathy carriers in different ethnic groups of this study group. Materials and Methods: This study was conducted at a Regional Hemoglobinopathy Detection and Management Centre of a tertiary-care hospital in central India in newly admitted medical students and was approved by the institutional ethics committee. Venous blood samples were analyzed for blood counts and solubility test positivity. Electrophoresis for pattern analysis and high-performance liquid chromatography for confirmation of diagnosis were used on each student. Results were analyzed with the help of statistical analysis. Results: Overall prevalence of hemoglobinopathies was 10%. Beta-Thalassemia trait was the most prevalent hemoglobinopathy followed by sickle cell trait. Presence of hemoglobinopathies was seen in varied ethnic groups. Conclusion: Importance of screening in young asymptomatic individuals is highlighted.

DAO-2, a New Software Tool for Multiple Differential Diagnoses with Probability. Application for the Screening of Rare Anemias in Sardinia

The increasing number of laboratory parameters and diagnostic information makes every day more difficult to remember the entire differential Diagnosis list for all of them. The high prevalence or rare anemias in the island of Sardinia (Italy) makes mandatory to screen the general population for the possible presence of hemoglobinopathies. In fact, the prevalence of Beta Thalassemia goes from 9.1 % of the population in the City of Nuoro to 11.7% in the City of Muravera. The prevalence of Alpha Thalassemia genetic mutations is much more frequent, going from 9.1% in the City of Tempio to 39% in the City of Alghero.DAO-2 is a software tool made using C## (C Sharp) and SQL relational databases, that permit to do Multiple Differential Diagnoses that consist in the Differential Diagnosis of more than one symptom at the same time. After, using the probabilistic theory called Bayes Theorem or Rule of Bayes, gives the probability of every possible disease or medical condition.We have checked the utility of DAO-2 as a software tool for the screening of the rare anemias in Sardinia. The Ospedale Pediatrico Microcitemico is a Hospital a Specialized in thalassemia and other rare anemias. We have cheked the utility of DAO-2 in 394 consecutive patients with a known anemia that came to our hospital and also in 195 persons in that we have excluded the presence of anemia or genetic conditions that predispose to a rare anemia (controls). TableDiagnosticnNON BETA (control)195HbH (alfa thalasemia intermedia)129Thalassemia intermedia Splenectomized33Alfa Thalassemia Trait diag.suspected32Beta Thalassemia Trait30Iron Deficiency Anaemia22Thalassemia intermedia (Beta-Thal Interm)18Alfa Thalassemia Heterozygous14Thrombopenia11microdrepanocitosi (Beta-S)8Thalassemia homozygous (young children Intermedia/Major)7Beta Thal Thalassemia major transfused7HbH (Alfa Thalassemia intermedia) transfused6Hereditary Spherocytosis Splenectomized5Blackfan-Diamond Anemia3Dyserithropoietic Anaemia type I (CDA I)3Sickle cell anaemia3Iron Deficiency Anaemia treated3Piruvate-Kinase deficiency3IRIDA iron-refractory iron deficiency anemia3Beta Thalassemia major3Fanconi’s Anaemia2Dyserithropoietic Anaemia type II (CDA II)2Hyporegenerative anemia2Anemia of Newborn2Megaloblastic Anemia1Piruvate-Kinase deficiency Splenectomized1Hemoglobinopaty (Taybe) + α- thalassemia1Hemoglobinopaty hyperunstable (Hb Cagliari)1Hemoglobinopaty Koln1Hemoglobinopaty E (Hb E)1Hemoglobinopaty G (Hb G-Copenaghen)1Hemoglobinopaty J (Hb J-SARDEGNA)1HbH (alfa thalasemia intermedia) Splenectomized1Leucopenia & Neutropenia1Metahemoglobinemia (MET-Hb)1Pyropoikilocytosis1Evans’s Syndrome1Hereditary Spherocytosis28Delta-Beta Thalassemia (Sardegna)1HbH (alfa thalasemia intermedia) + Beta Thalassemia Trait1Total394The use of this new software, called DAO-2 makes possible to predict in the majority of the cases the presence of a rare anemia or a heterozygous non clinical carrier of genetic changes that can provoke a rare anemia. It is necessary to do prospective studies to check the efficiency of this software before to use it in the clinical practice. DisclosuresNo relevant conflicts of interest to declare.

Type 2 Diabetes in Children and Adolescents.

Anticipatory guidance regarding healthy eating and active lifestyle is recommended to prevent obesity. Regular targeted screening for type 2 diabetes is recommended in children at risk. Children with type 2 diabetes should receive care in consultation with an interdisciplinary pediatric diabetes healthcare team. Early screening, intervention and optimization of glycemic control are essential, as the onset of type 2 diabetes during childhood is associated with severe and early onset of microvascular complications.

Iron Metabolism and Malaria

Recent evidence from a large, randomized, controlled trial has suggested that the universal administration of iron to children in malaria-endemic areas is associated with an increase in adverse health outcomes. The purpose of this paper is to summarize the available ecologic and intervention trials related to iron and malaria in children, and to set these against current knowledge of the biology of host-pathogen interactions involving iron metabolism. We conclude that, although not fully consistent, the balance of evidence confirms that administration of iron (usually in combination with folic acid) increases the incidence of malaria when given without prophylaxis and in the absence of universal access to treatment. The mechanisms by which additional iron can benefit the parasite are far from clear. There is evidence to suggest that the apparent detrimental effect of iron supplementation may vary according to levels of antecedent iron status, the presence of hemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) deficiency, and other host genetic variants, such as variants in haptoglobin. The effects of malaria on host iron metabolism are also reviewed and reveal that the key cause of malaria-induced anemia is a maldistribution of iron and suppression of erythropoiesis rather than an exacerbation of gross iron deficiency. We tentatively conclude that, if it is to be recommended, universal iron supplementation in malarious areas should only be considered in conjunction with some form of prophylaxis (e.g., intermittent preventive therapy [IPT]) or in the context of good health services with ready access to facilities for malaria diagnosis and treatment. An alternative approach would be to screen for anemia and target supplementation only to anemic children. With regard to treatment, there is good evidence that iron supplementation should be withheld until the treatment schedule is complete, both because iron may inhibit treatment and because the absorption of oral iron is blocked by the inflammatory response.

Anemia and hemoglobinopathies in tribal population of Eastern and North-eastern India

It is estimated that out of approximately 31.4 million people living in North-eastern India, about 8.1 million are tribal people of the hills and plains. Among four of the seven north-eastern states, tribal people are in majority. Arunachal Pradesh is made of approximately 24 major tribal groups, which constitute about 70% of the total population, Tripura 29% and in Assam constitutes 11%.A total of 1726 cases were randomly selected in this study, out of which 1263 cases were from North-east India, namely from Arunachal Pradesh, Assam, Tripura and the rest were from West Bengal. Hematological parameters were estimated and agarose gel electrophoresis for identification of the Hb variants was performed. DNA was isolated, amplified and analysed by PCR-ARMS technology. The incidence of anemia among the tribal people of Assam was 59.82%, in Arunachal Pradesh 53.77% and Tripura 57.45%.The presence of hemoglobinopathies and thalassemia account for anemia in a sizeable population of the north-eastern states in certain tribes and urgent health resources are needed to deal with this. HbE appears to be the commonest hemoglobin among the different tribes of north-east.

Presence of hemoglobinopathies in Sicily: a historic perspective.

Sicily, at the center of the Mediterranean, has been the meeting place of Eastern and Western civilizations, and in the Sicilian population the presence of many different alterations in the globin gene clusters can surely be considered testimony of past colonizations. From 1975 to 1994, 100,000 Sicilian subjects were screened by us to monitor the presence of hemoglobin (Hb) structural variants. In this paper we present the data gathered, emphasizing the high incidence (2.5%) of carriers of at least one abnormal Hb, and the great heterogeneity of globin molecular defects on the island. Twenty-six different mutations were identified: the most common occur in the beta-globin gene (beta(S), beta(C), deltabeta(Lepore), beta(G-San José), beta(O-Arab), but also quite frequent is the mutated allele alpha(J-Oxford). The chromosome haplotypes associated with some of them were characterized. Two uncommon Hbs, Copenhagen and D Punjab, and some 18 rare variants complete the wide spectrum of structural alterations of globin genes in Sicily. We think they are de novo mutations prevalently. It is not possible to exclude that the presence of a few of them is related to migratory phenomena, particularly from North Africa and East Asia. Numerous thalassemic alleles complete the picture of globin gene mutations in Silicy.