Hemoglobin S Screening Using the « Sickle Scan » - Biomedomics System. the Necker-Enfants Malades Hospital Experience

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1308-1308 ◽  
Author(s):  
Louis MINE ◽  
Thao Nguyen-Khoa ◽  
Birch Allaf ◽  
Jean-Antoine Ribeil ◽  
Christelle Remus ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Extreme Values ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
False Negative ◽  
Cross Reactivity ◽  
Adult Patients ◽  
Hemoglobin E ◽  
Hb S ◽  
Hb C

Abstract Context: The principle of Sickle Scan (Biomedomics, Inc.) is a rapid, point-of-care qualitative lateral flow immuno-assay kit for the identification of sickle cell conditions of Hb A, S and C. Sickle Scan was specifically developed to allow for the identification of sickle cell trait Hb AS, heterozygotes AC, and Hb SS, Hb SC and Sβ° patients. Other sickle cell conditions as SD, SE, SO-Arab, S Lepore,… cannot be identified using Sickle Scan system. The test must be done using venous blood or capillary blood (fresh or dried blood spots). Patients and methods: Two hundred and fifty patient samples (143 adults and 107 newborns) were analyzed. All tests were performed according the manufacturer's recommendations in one laboratory by 2 observers. The reference tests used for comparison were HPLC (NBS Variant - Bio-Rad) and capillary electrophoresis (Capillarys 3 - Sebia). Results: Comments: In adult patients, the 2 observers concordantly detected the presence of Hb A, Hb S and Hb C. There were 4 differences of interpretation between them (no Hb A in a AS patient and no Hb A in 3 SS transfused patients). The percentage of Hb A in these 3 last patients was respectively 13.6%, 17.7% and 18%. There was no false positivity neither in the patient heterozygous AE nor in the patient SD. No false negativity occurred for Hb S and C. In newborns, the accuracy of the test was excellent for the identification of the phenotypes FA, FAS, FAC, FS (SS / Sβ°). The lowest detected values of Hb S and Hb C in FAS and FAC newborns were respectively 2.4 and 3.4 %. We observed an inconstant cross-reactivity of the antibody anti Hb S with the hemoglobins E and D, in respectively 3/25 FAE phenotype and 6/26 in the FAD phenotype. There was no cross reaction with hemoglobin Bart's and O-Arab. In FAS newborns the mean and extreme values of the percentage of Hb A were m=8.2 (2.6-15.5) and no difficulties occurred for the identification of these low percentages of Hb A. This observation is different from those made in adult patients for which one observer did not find Hb A in transfused patients with highest values of Hb A comprised between 13.6 and 18. Conclusions: In this series of adult and newborn patients, the Sickle Scan appeared as an accurate method for the identification of AS, AC, SS/Sβ° and SC phenotypes. False positive tests were observed in some patients with hemoglobin E or D but no false negative results were found as regards the identification of Hb S and Hb C. Table Table. Disclosures Ribeil: Bluebirdbio: Consultancy; Addmedica: Research Funding.

scholarly journals Ionic strength dependence of the polymer solubilities of deoxyhemoglobin S + C and S + A mixtures

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 887-892 ◽  
Author(s):  
RM Bookchin ◽  
T Balazs
Keyword(s):  
Ionic Strength ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Minor Role ◽  
Ionic Strength Dependence ◽  
Hemoglobin C ◽  
Strength Dependence ◽  
Hb S ◽  
A Minor ◽  
Hb C

Abstract Factors contributing to the clinical differences between sickle cell- hemoglobin C disease (SC) and the benign sickle cell trait (AS) include the higher proportion of hemoglobin (Hb) S and the higher cell Hb concentrations in SC compared with AS red cells. Reports differ, however, about whether Hb C copolymerizes more than Hb A with Hb S when measured by minimum gelling concentrations (MGCs) and polymer solubilities of the deoxy-Hb mixtures. We now show that the MGCs and solubilities of equimolar mixtures of Hb S + Hb C vary much more with the ionic strength (mu) of the solution than those of Hb S + Hb A mixtures. At mu less than or equal to 0.20, but not at mu greater than 0.25, Hb S + Hb C solubilities were significantly lower than those of Hb S + Hb A. These differences which may reflect a greater effect of the beta 6Lys+ in Hb C at lower mu, can account for the reported discrepancies. The solubility differences were similar in the presence or absence of asymmetric hybrids, and since the intratetramerically cross-linked hybrids alpha 2 beta s beta A and alpha 2 beta s beta c had similar solubilities, they did not indicate the usual mechanism, involving greater incorporation of alpha 2 beta s beta c into the polymers. The small solubility differences between the two Hb mixtures at physiologic (red cell) concentrations of Hb and 2,3- diphosphoglycerate probably play a minor role in the clinical differences between SC and AS states.

scholarly journals Ionic strength dependence of the polymer solubilities of deoxyhemoglobin S + C and S + A mixtures

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 887-892
Author(s):  
RM Bookchin ◽  
T Balazs
Keyword(s):  
Ionic Strength ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Minor Role ◽  
Ionic Strength Dependence ◽  
Hemoglobin C ◽  
Strength Dependence ◽  
Hb S ◽  
A Minor ◽  
Hb C

Factors contributing to the clinical differences between sickle cell- hemoglobin C disease (SC) and the benign sickle cell trait (AS) include the higher proportion of hemoglobin (Hb) S and the higher cell Hb concentrations in SC compared with AS red cells. Reports differ, however, about whether Hb C copolymerizes more than Hb A with Hb S when measured by minimum gelling concentrations (MGCs) and polymer solubilities of the deoxy-Hb mixtures. We now show that the MGCs and solubilities of equimolar mixtures of Hb S + Hb C vary much more with the ionic strength (mu) of the solution than those of Hb S + Hb A mixtures. At mu less than or equal to 0.20, but not at mu greater than 0.25, Hb S + Hb C solubilities were significantly lower than those of Hb S + Hb A. These differences which may reflect a greater effect of the beta 6Lys+ in Hb C at lower mu, can account for the reported discrepancies. The solubility differences were similar in the presence or absence of asymmetric hybrids, and since the intratetramerically cross-linked hybrids alpha 2 beta s beta A and alpha 2 beta s beta c had similar solubilities, they did not indicate the usual mechanism, involving greater incorporation of alpha 2 beta s beta c into the polymers. The small solubility differences between the two Hb mixtures at physiologic (red cell) concentrations of Hb and 2,3- diphosphoglycerate probably play a minor role in the clinical differences between SC and AS states.

Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait

Blood ◽  
2010 ◽  
Vol 116 (15) ◽  
pp. 2822-2825 ◽  
Author(s):  
Jeffrey J. Swensen ◽  
Archana M. Agarwal ◽  
Jose M. Esquilin ◽  
Sabina Swierczek ◽  
Ajay Perumbeti ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Uniparental Disomy ◽  
Mendelian Inheritance ◽  
Cell Disease ◽  
Erythroid Progenitors ◽  
Mendelian Genetics ◽  
Abnormal Hemoglobin ◽  
Hb S

Abstract Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring. However, there are exceptions to that rule. We describe here the first reported case of conversion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes. A 14-year-old boy presented with splenomegaly and hemolysis. Although his father has sickle cell trait, his mother has no abnormal hemoglobin (Hb). DNA sequencing, performed to rule out Hb S/β-thalassemia, detected homozygous Hb SS. Further studies revealed mosaic UPD of the β-globin locus, more SS erythroid progenitors than AS, but a reverse ratio of erythrocytes resulting from the survival advantage of AS erythrocytes. This report exemplifies non-Mendelian genetics wherein a patient who inherited sickle cell trait has mild SCD resulting from postzygotic mitotic recombination leading to UPD.

Progressive Glomerular Damage in Sickle Cell Trait and Sickle Cell Anemia Mouse Models

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3637-3637
Author(s):  
Santosh L. Saraf ◽  
Justin R. Sysol ◽  
Alexandru Susma ◽  
Suman Setty ◽  
Xu Zhang ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Linear Trend ◽  
Differentially Expressed ◽  
Mesangial Expansion ◽  
Urine Protein ◽  
Increased Risk ◽  
Hb S ◽  
Age And Sex

Abstract Homozygous inheritance of the hemoglobin S mutation (Hb SS; sickle cell anemia) affects 1 in 500 African Americans and is consistently associated with an increased risk for kidney disease, although the mechanisms are poorly understood. Heterozygous inheritance (Hb AS; sickle cell trait) affects 1 in 8 African Americans and has also been associated with an increased risk for kidney disease in some, but not all cohorts. We first investigated whether inheritance of the Hb S mutation resulted in incremental kidney damage in Hb AS and Hb SS mice compared to Hb AA mice using transgenic sickle mice >6 months old (Townes model, Jackson Laboratory). Using Masson trichrome stained sections of the kidney, patterns of mesangial expansion were determined in age- and sex-matched mice by a renal pathologist blinded to the hemoglobin genotype of each specimen. Hb AS mice had diffuse (>50% of the glomeruli per slide being involved) mesangial expansion while Hb SS mice had diffuse and global (>50% of the individual glomerulus being involved) mesangial expansion. Glomerular perimeters were measured using NanoZoomer Whole Slide Imaging in 26 randomly selected glomeruli from 2 mice per genotype. Using >300µm in circumference as the definition for an enlarged glomerulus, the proportion of enlarged glomeruli progressively increased from Hb AA to Hb AS to Hb SS mice (Cochran's test of linear trend, P=0.002)(Figure 1A). Progressively higher urine protein-to-creatinine ratios were also observed from Hb AA to Hb AS to Hb SS mice (Figure 1B; test for linear trend, P=0.03) as were progressively higher kidney weights: Hb AA (429±28mg, n=8), Hb AS (446±27mg, n=18), Hb SS (567±19mg, n=5) (Test for linear trend, P=0.047). We then compared the mRNA expression profiles in the kidney cortices, which predominantly include glomerular and proximal tubular cells, of 15 age- and sex-matched mice (5 per Hb genotype) using the Affymetrix Mouse Gene 2.0ST Array. Using an additive model with an FDR<0.01, 6 of the 10 most differentially expressed genes were involved in heme or iron metabolism (HMOX1: β 0.93, P=0.0004; SLC25A37: β 0.75, P=3.9x10-6), kidney function (SLC4A1: β 0.87, P=1.0x10-5; AQP6: β 0.79, P=2.0x10-5), or inflammation (RSAD2: β 0.76, P=5.2x10-6; C3: β 0.76, P=0.0005). Other genes that have been implicated in kidney disease and were differentially expressed at an FDR<0.01 included PODXL and EFNB2 (encode glomerular proteins integral for maintaining the filtration barrier) as well as FRMD3 and ELMO1 (implicated in diabetic nephropathy). KEGG physiologic pathways among the differentially expressed genes included focal adhesion (3.4-fold, P=6.0x10-7), extracellular matrix-receptor interaction (5.0-fold, P=3.2x10-6), and phosphatidylinositol signaling systems (3.5-fold, P=0.003). In conclusion, we observed progressive glomerular injury, determined by mesangial expansion, proportion of enlarged glomeruli, and urine protein concentrations, in Hb AS and Hb SS mice compared to Hb AA mice. Renal cortex-expressed genes involved in heme and iron homeostasis, kidney function, and inflammation were differentially expressed with inheritance of the Hb S mutation and may play important roles in the pathophysiology of kidney disease in individuals with sickle cell trait or sickle cell disease and will require further investigation. Figure Figure. Disclosures No relevant conflicts of interest to declare.

scholarly journals A clinico-haematological study of hereditary hemoglobinopathies: a tertiary care centre experience

2021 ◽  
Vol 9 (8) ◽  
pp. 2309
Author(s):  
Bhagyalakshmi Atla ◽  
Venkata Satya Kartheek Botta ◽  
Padmapriya Balakrishnan ◽  
Neelima Lalam ◽  
Anuradha Argi ◽  
...  
Keyword(s):  
Sickle Cell ◽  
High Performance ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
Tertiary Care ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Common Symptom ◽  
Tertiary Care Centre

Background: Hemoglobinopathies are the cause of concern in India for not only its effect on the quality of life in patients but also for their inheritance patterns. Tribal population of Visakhapatnam district has a high chance of inheriting hemoglobinopathies due to their culture of consanguineous marriage. Aim and objectives of current study were to know the distribution of various abnormal haemoglobins in cases with clinical suspicion of hemoglobinopathies.Methods: This hospital-based observational study was conducted for a period of 10 months in the department of pathology, Andhra Medical College, Visakhapatnam. A total of 151 cases with suspected hemoglobinopathies, their parents, and siblings were screened for the presence of hemoglobinopathies. 3ml of venous blood was collected to perform complete blood count, peripheral smear, reticulocyte count, sickling test and High Performance liquid chromatography (HPLC).Results: In the present study, out of 151 cases, 55 cases (36.42%) were adults, and 96 cases (63.57%) cases were children. 67cases (44.37%) were asymptomatic and 84 (55.62%) were symptomatic. The most common symptom of subjects are fever (23 cases, 27.38%) and dyspnoea (22 cases, 26.19%). 85 cases (56.29%) had normal HPLC, and 66 cases (43.70%) had abnormal hemoglobin variants. The most common hemoglobinopathy detected by HPLC was sickle cell trait (36 cases, 23.84%) followed by homozygous sickle cell anemia 15 (9.93%). Other hemoglobinopathies detected were beta-thalassemia trait; 8 cases (5.29%) and compound heterozygous sickle beta-thalassemia 3 cases (1.98%).Conclusions: Endemic areas for hemoglobinopathies has to be screened with HPLC along with complete hemogram in suspicious cases for the better diagnosis and management of the condition.

Evaluation of the CapillaryS 2 CE System for Hemoglobinopathy Investigations.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3781-3781
Author(s):  
Andrew G. McFarlane ◽  
Linda M. Halchuk ◽  
Barry Eng ◽  
John Waye ◽  
Mark A. Crowther
Keyword(s):  
Newborn Screening ◽  
High Performance ◽  
Rare Variants ◽  
Nucleotide Sequencing ◽  
Hemoglobin E ◽  
Hb E ◽  
Hb S ◽  
Hb H Disease ◽  
User Friendly ◽  
Hb C

Abstract Traditional diagnosis of hemoglobinopathies rely on separation and accurate quantification of hemoglobin (Hb) fractions using alkaline and acid electrophoresis, isoelectric focusing (IEF) and/or High Performance Liquid Chromatography (HPLC). Recent reports have suggested capillary electrophoresis (CE) as an alternate method for screening. We evaluated a new CE system the Sebia CapillaryS 2 (Evry Cedex, France) and compared it to IEF and HPLC. For this evaluation samples referred to our laboratory for routine hemoglobinopathy screening or as cord bloods sent for confirmation of a variant detected as a result of newborn screening were analyzed using all three techniques. IEF was performed with the Resolve IEF kit (Perkin Elmer,Wallac Oy, Finland). HPLC was done on the BioRad Variant II (Munich, Germany) using the Hb A2/Hb A1c Dual program. The CE was performed using the “Capillarys Hemoglobin(E) kit”. Suspected rare variants were further investigated with DNA investigations, including PCR and direct nucleotide sequencing. Variant hemoglobins were detected in 156 of 764 samples (Table 1). The correlation between IEF, HPLC and CE was excellent. One variant (Hb Toulon) was not detected by the CE but ran with Hb F. The CE system did not report the Hb F value on samples with very low (< 1.0%) Hb F by HPLC. Two cases of Hb Constant Spring were identified by CE but not by either IEF or HPLC. The correlation of both Hb F and Hb A2 reported between the CE and HPLC systems were excellent (R > 0.99 and 0.98, Figure 1 and Figure 2 respectively). The positive bias of Hb A2 seen in HPLC when Hb S is present was lower in the CE. However, the CE system demonstrated a negative bias for Hb A2 if Hb C was present. CE was the only system capable of separating Hb A2 from Hb E. We conclude that CE is comparable to both IEF and HPLC for separation and quantification of hemoglobin fractions; this system has the added advantage of reporting Hb A2 in the presence of Hb E and consistently identifies Hb Constant Spring, which is not easily detected on IEF or HPLC. Further this CE system is user friendly and holds promise as a tool for newborn screening and routine laboratory hemoglobinopathy investigations. Hemoglobinopathy Detected Hemoglobinopathy Number β Thalassemia 99 Hb S trait 55 Cord with Hb Barts 28 Hb C trait 13 Hb E trait 12 Hb D trait 8 α variant (not yet identified) 5 Hb Barts + Hb S trait 4 Hb Barts + Hb D trait 3 Hb S disease 3 Hb Barts + Hb E trait 2 Hb E +β Thalassemia 2 Hb H disease 2 Hb Constant Spring 2 Hb J Baltimore 2 Hb Toulon 2 δ variant (not identified) 2 Hb S + Hb C 1 Hb Barts + Hb C trait 1 Hb Q Thailand + --SEA/αα 1 Homozygous Hb E + Hb Constant Spring 1 Hb S + Hb Kenya 1 Hb J Roviga 1 Hb Beograd 1 Hb G Coushatta 1 Hb Sirian 1 Hb Titusville 1 B variant (not identified yet) 1 Total Abnormal 255 No hemoglobinopathy detected 509 Total 764 Hb F: HPLC vs CE Hb F: HPLC vs CE Hb A2: HPLC vs CE Hb A2: HPLC vs CE

The Occurrence of Four Globin Abnormalities in One Individual: Hb SC Disease with Hb Chicago and Deletional Alpha Thalassemia.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3802-3802
Author(s):  
Heather Hughes ◽  
Ferdane Kutlar ◽  
Kathleen M. McKie ◽  
Leslie Holley ◽  
Dedrey Elam ◽  
...  
Keyword(s):  
Functional Properties ◽  
Sickle Cell ◽  
Globin Gene ◽  
Crystal Formation ◽  
Local Health ◽  
Hb S ◽  
In Trans ◽  
Α Chain ◽  
Chain Variant ◽  
Hb C

Abstract The occurrence of multiple globin abnormalities in one individual is not very rare, particularly in populations where hemoglobinopathies are common. In most cases, this is of genetic interest and may pose a diagnostic challenge due to the interaction of the products of mutant α and β globin genes and the presence of hybrid hemoglobins. Co-inheritance of α globin variants with sickle cell disease (Hb SS or SC) could have an effect on the disease phenotype particularly when the variant in question has altered functional properties (decreased or increased oxygen affinity) or stability. We report a patient with Hb SC disease with co-inheritance of the α chain variant, Hb Chicago (α136Leu→Met), and deletional α thalassemia (−α3.7) in trans to the Hb Chicago mutation. The patient is a 3-year old African-American male referred to the Pediatric Sickle Cell Clinic from the local Health Department. He is the product of an uneventful term pregnancy and a normal labor. He presented with seizures at age 3 weeks and underwent a neurologic evaluation which failed to reveal any abnormality. His subsequent course was uneventful without further seizures after 1 year of age and no hospitalizations. Physical exam was unremarkable with normal growth. A CBC showed Hb of 11.3 g/dl, Hct 35.2%, MCV 64.8 fl, MCH 20.8, MCHC 32.1, RDW 18.4%, retic count of 1.7% (absolute retic count of 92,480). Cation exchange HPLC revealed a Hb F of 6.8%, A2 3.3%, Hb S 33.1% and Hb C 30.0%. Both Hb S and Hb C peaks were followed by an additional peak of 13.2% (Hb SX) and 13.6% (Hb CX) respectively suggesting the presence of an α chain variant. The total quantity of Hb S was 46.3% (Hb S+Hb SX) and that of Hb C was 43.6% (Hb C+ Hb CX), whereas Hb X amounted to 26.8%. A reversed phase HPLC confirmed the presence of an α chain variant, which eluted earlier than normal α chains; αX constituted 37.5% of the total α chains. Sequencing of the β-globin gene confirmed the presence of Hb S (GAG→GTG) and Hb C (GAG→AAG) mutations in codon 6. A PCR for α globin deletions confirmed heterozygosity for the -α3.7 deletion. α globin sequencing revealed an apparent homozygosity for a CTG→ATG (Leu→Met) substitution of the codon 136 in α2 globin gene; this “apparent” homozygosity is due to the -α3.7 deletion in trans. Family studies showed that the patient’s mother had Hb C trait with heterozygous α-thalassemia; the father was not available. The paternal grandmother had normal α-globin gene numbers, with heterozygous Hb Chicago, which was quantitated at 20.7%. Thus, the patient’s genotype was ascertained as βS/βC;-α/αChicagoα. Hb Chicago has been reported in conjunction with Hb SS but not with Hb SC disease. The co-inheritance of the α-chain variant, Hb G-Philadelphia (α68Asn→Lys) and Hb SC disease, has been reported by Lawrence et al (Blood90:2819–25, 1997); this combination resulted in the acceleration of Hb C crystal formation and decreased Hb S polymerization with a resultant mild sickling disorder. α136 is a heme contact; the Leu→Met substitution in Hb Chicago does not alter the functional properties or the stability of the molecule and is not associated with any hematologic abnormalities in heterozygous carriers. This residue is not involved in intermolecular contacts of deoxy Hb S and hence is not expected to alter the kinetics of deoxy Hb S polymerization. The significance of this observation is the accurate diagnosis of the complex Hb phenotype and ascertainment of its lack of interaction with the sickling or crystallization process.

Evaluation of a commercial kit for microchromatographic quantitation of hemoglobin A2 in the presence of hemoglobin S.

1981 ◽  
Vol 27 (7) ◽  
pp. 1244-1247 ◽  
Author(s):  
R M Baine ◽  
H G Brown
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Accurate Method ◽  
Beta Thalassemia ◽  
Coefficients Of Variation ◽  
Hb S ◽  
Slow Moving ◽  
Commercial Kit ◽  
Hemoglobin A2

Abstract Commercial microcolumns introduced in 1976 by Helena Laboratories ("Hb A2 Quik Column") and by Isolab, Inc. ("Quik-Sep") provide a rapid, simple, accurate method for quantitation of hemoglobin A2 (Hb A2). However, these kits cannot be used for the quantitation of Hb A2 in the presence of slow-moving variants such as Hb S. Recently, Isolab, Inc., produced a new kit ("Quik-Sep Improved Hb A2 Test") for quantitation of both Hb A2 and Hb S. We compared results obtained with the new Isolab kit to results obtained with the original Tris/HCl method for quantitation of Hb A2 and Hb S. Blood was drawn from persons with sickle cell trait (A/S), sickle cell anemia (S/S), sickle cell/beta+ thalassemia (S/beta+ thal) and sickle cell/beta 0 thalassemia (S/beta 0 thal) and percentages of Hb A2 and Hb S were determined by each method. We found no significant differences in Hb A2 percentages by the two methods, and the coefficients of variation were similar. Both methods showed only slight overlap of Hb A2 values from subjects with some form of beta thalassemia and those with A/S or S/S. However, the Tris/HCl method consistently gave values for Hb S that were higher and closer to those expected, suggesting that the Isolab kit does not accurately quantitate Hb S.

scholarly journals Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

2019 ◽  
Vol 35 (6) ◽  
Author(s):  
Hassan Abdu Hamali ◽  
Muhammad Saboor
Keyword(s):  
Sickle Cell ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Thalassemia Major ◽  
Research Centre ◽  
Potential Threat ◽  
Hemoglobin E ◽  
Iron Deficient ◽  
Premarital Screening

Objectives: To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre. Methods: This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan, between January 2018 and October 2018. A total of 3,970 (male n =1,859 and female n = 2,111) individuals were included in the study. Data of complete blood count, hemoglobin electrophoresis and sickling tests of all individuals recruited in the study were obtained and statistically analyzed. Results: One thousand three hundred and twelve individuals had abnormal complete blood counts or hemoglobin electrophoresis results, that include sickle cell trait (13.5%), sickle cell disease (0.7%), β thalassemia with sickle cell trait (2.46%), β thalassemia trait (1.51%), β thalassemia major (0.075%), suspected α thalassemia or other hemoglobinopathies (4.43%), hemoglobin H (0.3%), hemoglobin E (0.075%), undiagnosed cases (0.91%) and iron deficient (7.23%). Conclusion: A high percentage of individuals are suspected for α thalassemia or other hemoglobinopathies that needs to be diagnosed. Further investigations shall be included in the premarital screening program to diagnose these inconclusive cases. Coexistence iron deficiency with thalassemia shall also be ruled out during premarital screening program. doi: https://doi.org/10.12669/pjms.35.6.976 How to cite this:Hamali HA, Saboor M. Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. Pak J Med Sci. 2019;35(6):1611-1615.  doi: https://doi.org/10.12669/pjms.35.6.976 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Neonatal Screening for Sickle Cell Disease in a Metropolitan University Hospital: Efficacy and Problems

1994 ◽  
Vol 1 (4) ◽  
pp. 229-232 ◽  
Author(s):  
Samir K Ballas ◽  
Deborah Park ◽  
Ronald J Wapner
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Screening Programme ◽  
Sickle Cell Trait ◽  
Family Members ◽  
University Hospital ◽  
Cell Disease ◽  
Metropolitan University ◽  
Hb C

To determine the effectiveness of a screening programme to identify infants with sickle cell anaemia. A metropolitan university hospital. 4845 (73·3%) newborn cord blood samples from 6271 infants born in the Thomas Jefferson University Hospital over a two year period were tested for the presence of haemoglobinopathies. The patient group comprised approximately 44% white Americans and 51% African Americans. Diagnoses of haemoglobinopathies were established by cellulose acetate (pH 8·6) and citrate agar (pH 6·2) electrophoresis, and thin layer isoelectric focusing. 17 African American infants were suspected of having sickle cell anaemia and their families were notified and called for retesting to confirm the diagnosis. Fourteen of these families responded; retesting confirmed the diagnosis of sickle cell anaemia in 12 (86%), and the remaining two (14%) had sickle cell trait The other three families never responded and all efforts to reach them were unsuccessful so the diagnosis could not be confirmed. The infants for whom the diagnosis of sickle cell anaemia was confirmed were treated prophylactically with penicillin and enrolled in sickle cell programmes. Of 398 infants with an abnormal haemoglobin (Hb), 170 (3·5% of all infants tested) showed sickle trait, 63 (1·3%) showed Hb C trait, and 165 samples (3·4%) showed Hb Bart's. Letters of notification were sent to those families whose infants had sickle trait or Hb C trait. Thirty three (16%) families responded and asked for additional information, counselling, or testing of other family members. Three of these families (about 0–1% of all white subjects tested) were white subjects of Italian, English, and Polish ancestry, and all of their infants had sickle trait. Additional testing on other family members showed that one black parent had Hb SC disease that had not previously been diagnosed as the subject was asymptomatic. A screening programme for newborns in a metropolitan hospital ( a) was effective in identifying and treating infants with sickle cell anaemia with prophylactic penicillin, ( b) was associated with difficulties in tracking infants and their families in about 30% of suspected cases of sickle cell disease, ( c) found that sickle trait is not uncommon in white subjects, and ( d) found that “silent” sickle cell disorders do occur among American black subjects.

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