Causes of Abnormal Hemoglobin Electrophoresis / 中国实验血液学杂志

OBJECTIVE@#To investigate the possible causes of abnormal hemoglobin electrophoresis results.@*METHODS@#The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed.@*RESULTS@#The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of β thalassemia and 9 cases of αβ thalassemia. Among the patients with elevated HbA2, 68.67% were detected β thalassemia, 3.00% αβ thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J.@*CONCLUSION@#Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.

Genetic Analysis of Thalassemia in 22 940 Pregnant Women in Xiangxi Tujia and Miao Autonomous Prefecture / 中国实验血液学杂志

OBJECTIVE@#To investigate the incidence and types of thalassemia in Xiangxi Tujia and Miao Autonomous Prefecture.@*METHODS@#Automatic capillary electrophoresis was used to screen the thalassemia phenotypes of 22 940 blood samples of pregnant women and puerperants collected in our hospital and some other medical institutions in the prefecture during 2017-2019, among which there were 3 356 cases of Tujia ethnicity, 2 821 cases of Miao ethnicity, and 2 233 cases of Han ethnicity included, whose ethnicity were indicated. The samples with positive result would undergo further genetic testing.@*RESULTS@#There were 2 314 cases of suspicious thalassemia were screened from 22 940 cases by the electrophoresis, thus the positive rate was 10.1% (hematological phenotypes from some other institutions were not included). Specifically, there were 1 706 cases with HBA2 less than 2.5%, 255 cases with HBA2 ranged from 2.5% to 3.5%, which displayed abnormal hematology (MCV or/and MCH) or other abnormal bands, and 353 cases with HBA2>3.5%. There were 436 suspected positive patients in 2 314 suspicious samples received further thalassemia gene testing in our hospital, among them 48 cases were diagnosed with α-thalassemia, 85 cases with β-thalassemia, and 2 cases as compound type. The positive diagnosis rate of α-thalassemia gene test was 11.0%, β-thalassemia was 19.4%, and positive pregnant women was 31.0%.@*CONCLUSION@#The positive rate of thalassemia screening in Xiangxi Autonomous Prefecture is roughly the same as that in other regions of Hunan. The positive predictive value of β-thalassemia screening is as high as 86%. Compared with the missed screening data, it is recommended to use hematology (MCV, MCH) method combined with capillary hemoglobin electrophoresis for thalassemia screening.

The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages / 中华医学遗传学杂志

OBJECTIVE@#To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region.@*METHODS@#Capillary hemoglobin electrophoresis and genetic testing for α and β globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves.@*RESULTS@#4591 patients with α, β, and αβ compound thalassemia were identified by genetic testing. The most common genotypes for α and β thalassemia included --SEA/αα and β654/βN, β41-42/βN, and β17/βN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, β-, αβ-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively.@*CONCLUSION@#HbA2 is an efficient indicator for identifying intermediate types of α-, β-, and αβ compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for β-thalassemia mutations.

Anti-interference hemoglobin analysis system by high performance liquid chromatography / 生物医学工程学杂志

High performance liquid chromatography (HPLC) is currently the mainstream technology for detecting hemoglobin. Glycated hemoglobin (HbA1c) is a gold indicator for diagnosing diabetes, however, the accuracy of HbA1c test is affected by thalassemia factor hemoglobin F (HbF)/hemoglobin A2 (HbA2) and variant hemoglobin during HPLC analysis. In this study, a new anti-interference hemoglobin analysis system of HPLC is proposed. In this system, the high-pressure three-gradient elution method was improved, and the particle size and sieve plate aperture in the high-pressure chromatography column and the structure of the double-plunger reciprocating series high-pressure pump were optimized. The system could diagnose both HbA1c and thalassemia factor HbF/HbA2 and variant hemoglobin, and the performance of the system was anti-interference and stable. It is expected to achieve industrialization. In this study, the HbA1c and thalassemia factor HbF/HbA2 detection performance was compared between this system and the world's first-line brand products such as Tosoh G8, Bio-Rad Ⅶ and D10 glycosylated hemoglobin analysis system. The results showed that the linear correlation between this system and the world-class system was good. The system is the first domestic hemoglobin analysis system by HPLC for screening of HbA1c and thalassemia factor HbF/HbA2 rapidly and accurately.

Diagnostic Cut-Off Value of RDW for Screening Thalassemia and the Combined Determination of MCV, MCH, HBA / 中国实验血液学杂志

OBJECTIVE@#To explore the value of red cell distribution width (RDW), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin (Hb) A2 combined determination scheme for screening thalassemia.@*METHODS@#The RDW levels of thalassemia group and healthy control group were detected and compared. The efficiency of RDW for screening thalassemia was evaluated by receiver operating characteristic (ROC) curve. The diagnostic cut-off value of RDW was also acquired by Youden index. Then, 3 groups for thalassemia screening scheme were set, including MCV+MCH+HBA @*RESULTS@#The RDW level in thalassemia group was significantly higher than that in healthy control group (P15.15, when the Youden index was the biggest among all data. The sensitivity, specificity, positive predictive value, negative predictive value, false negative rate and consistency rate of MCV+MCH+RDW(>15.15)+HBA @*CONCLUSION@#The diagnostic cut-off value of RDW for thalassemia screening has been established. The group of MCV(<82.0 fl)+MCH(<27.0 pg)+HBA

Diagnostic Value of HBA / 中国实验血液学杂志

OBJECTIVE@#To explore the diagnostic value of HBA@*METHODS@#1 178 couples in the department of women's health of Chongqing maternal and child health hospital were selected for pregnancy examination. Peripheral venous blood was extracted and analyzed for parallel blood routine test, hemoglobin capillary electrophoresis and thalassemia gene detection.@*RESULTS@#A total of 265 cases of thalassemia gene carriers were screened out in 1 178 couples； 91.3% β@*CONCLUSION@#HBA

Influence of Iron Deficiency on the Index of Thalassemia Screening / 中国实验血液学杂志

OBJECTIVE@#To investigate the influence of iron deficiency on the index of thalassemia screening.@*METHODS@#876 blood samples of the couples at childbearing age, who underwent red blood cell analysis, hemoglobin electrophoresis, ferritin and gene diagnosis were selected. The samples were divided into normal, iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, β-thalassemia and β-thalassemia combining with iron deficiency group. The differences of hematology index and hemolobin value A2 between each groups were analyzed.@*RESULTS@#The value of Hb, MCV, MCH, MCHC in iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, β-thalassemia and β-thalassemia combining with iron deficiency group all were lower than that of normal group, while the value of RDW-CV was higher, in which the difference between β-thalassemia was the highest. The distribution of HbA2 among each groups was not significantly different expect of β-thalassemia. There was no significant correlation between HbA2 and ferritin level.@*CONCLUSION@#RDW-CV increases in both iron deficiency and thalassemia. Iron deficiency has no significant effect on the level of hemoglobin A2.

Intraocular pressure in subjects with beta-thalassemia minor / Pressão intraocular em indivíduos com talassemia beta minor

ABSTRACT Purpose: Beta-thalassemia minor, a common hereditary blood disorder in Mediterranean countries such as Turkey, is associated with insulin resistance. Insulin resistance, in turn, can be associated with excessively high intraocular pressure and, therefore, intraocular pressure-induced blindness. This study aimed to investigate the intraocular pressure in subjects with beta-thalassemia minor. Methods: We conducted a cross-sectional study comprising of 203 subjects divided into two groups: beta-thalassemia minor (103) and healthy (100).Hemoglobin electrophoresis was performed and complete blood count, blood pressures, serum fasting glucose and insulin levels were measured. All subjects underwent ophthalmological examinations including intraocular pressure measurements. Results: Intraocular pressure in the subjects with beta-thalassemia minor was significantly lower than that in healthy subjects (p=0.007). Additionally, intraocular pressure was inversely correlated with hemoglobin A2 levels (p=0.001, r=-0.320). Serum insulin and systolic blood pressure were significantly higher in subjects with beta-thalassemia minor (p=0.03, p=0.009, respectively). Conclusion: Subjects with beta-thalassemia minor had lower intraocular pressure than healthy controls, suggesting beta-thalassemia minor may actually protect against high intraocular pressure.

RESUMO Objetivo: Beta-talassemia menor é uma doença hereditária comum no sangue em países mediterrâneos como a Turquia e está associada à resistência à insulina. A resistência à insulina por sua vez, pode estar associada à pressão intraocular excessivamente alta e, portanto à cegueira induzida pela pressão intraocular. Este estudo teve como objetivo investigar a pressão intraocular em indivíduos com beta-talassemia menor. Métodos: Foi realizado um estudo transversal compreendendo 203 indivíduos divididos em 2 grupos: beta-talassemia menor (103) e saudável (100). Eletroforese de hemoglobina foi realizada e hemograma completo, pressão arterial, glicemia em jejum e níveis de insulina medidos. Todos os indivíduos foram submetidos foram submetidos a exames oftalmológicos, incluindo medidas de pressão intraocular. Resultados: A pressão intraocular nos indivíduos com beta-talassemia menor foi significativamente menor do que em indivíduos saudáveis (p=0,007). Além disso, a pressão intraocular foi inversamente correlacionada com os níveis de hemoglobina A2 (p=0,001, r=-0,320). Insulina sérica e pressão arterial sistólica foram significativamente maiores em indivíduos com beta-talassemia menor (p=0,03, p=0,009, respectivamente). Conclusão: Os indivíduos com beta-talassemia menor tiveram pressão intraocular menor do que os controles saudáveis, sugerindo que a beta-talassemia menor pode, na verdade, proteger contra a alta pressão intraocular.

Genotyping of Patients with α and β Thalassemia in Fujian Province Area in China / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene-carrying rate and gene mutation types of α- and β-thalassemia in population of Fujian area and to analyze the differences in hemoglobin A2 (HbA2), mean cell volume (MCV) and mean cell hemoglobin (MCH) between different types of thalassemia, so as to provide the reference basis for screening and classification, genetic diagnosis and counseling about thalassemia.@*METHODS@#Total 1474 samples from different areas of Fujian province were detected for α- and β-thalassemsia genotypes by gap single PCR (GS-PCR) combined with reverse dot blot hybridization (RDB). The detection of peripheral RBC, hemoglobin and primary screening of thalassemia in each set of sample were carried out before test.@*RESULTS@#Among the detected 1474 samples, 704 (47.76%) were diagnosed as α-thalassemia, out of them 416 (28.22%) were diagnosed as α-thalassemia, 267(18.11%) as β-thalassemia, 21 (1.43%) as αβ-thalassemia. The α-thalassemia further was divide into 3 types: silent (5.09%), minor (22.18%) and HbH disease (0.95%), and their MCV, MCH and HbA2 levels were detected. The detection results showed obvious decrease trend with significant difference (P＜0.05).@*CONCLUSION@#The gene mutation types of thalassemia display obvious heterogenity in Fujian area. The gene type in α-thalassemia mostly is --/αα, the gene type in β-thalassemia mostly is IVS-Ⅱ-654. Moreover, the sings of anemia in Hb H disease of α-thalassemia are mostly serious, which obviously are different from other types of α-thalassemia.

Screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene / 中国当代儿科杂志

OBJECTIVE@#To investigate the screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene.@*METHODS@#A retrospective analysis was performed for the clinical data of 1 193 full-term neonates who underwent β-thalassemia screening (hemoglobin analysis with dried blood spots on neonatal heel blood filter paper and mutation detection of 17 β-globin genes). A multivariate logistic regression analysis was used to investigate the association between screening indices and β-thalassemia gene, and the receiver operating characteristic (ROC) curve was used to analyze the value of screening indices in determining the presence or absence of β-thalassemia gene.@*RESULTS@#Of the 1 193 neonates, 638 carried β-thalassemia gene. Of the 1 193 neonates, 637 (53.39%) had no HbA, among whom 310 carried β-thalassemia gene and 327 did not carry this gene; 556 (46.61%) had HbA, among whom 328 carried β-thalassemia gene and 228 did not carry this gene. As for the neonates without HbA, the β-thalassemia gene group had a significantly lower HbA level and a significantly higher HbF level than the β-thalassemia gene-negative group (P1.4 had the largest AUC in determining the presence or absence of β-thalassemia gene, with a sensitivity of 91.38% and a specificity of 91.89%.@*CONCLUSIONS@#HbA and HbA/HbA ratio are effective indices for screening out full-term neonates carrying β-thalassemia gene.

Effect of iron deficiency on the phenotype of beta-thalassaemia trait

The objective of this study was to determine the effect of iron deficiency on Hb-A2 level in beta-thalassaemia trait and to determine the frequency of individuals with beta-thalassaemia trait who could be missed due to concomitant iron deficiency. A total of 120 patients were studied, out of which 23 were iron deficient [serum ferritin < 20 ng/ml]. Mean Hb-A2 in the iron deficient individuals was 4.1 +/- 0.47% as compared to 5.1 +/- 0.58% in the remaining 97 individuals without iron deficiency [p < 0.001]. In the 120 individuals with beta-thalassaemia trait, mean Hb-A2 was 5.8% with range 3 - 6.8% and confidence interval was 95%. In 2 individuals with beta-thalassaemia trait, Iron deficiency was observed and showed Hb-A2 less than 3.5%. These could have been missed while screening by Hb-A2 estimation alone. Co-existence of Iron deficiency and beta-thalassaemia trait may mask the diagnosis of beta thalassaemia trait and such individuals can be missed during screening by Hb-A2 estimation alone

Analysis of Cut-off Value in Screening of Thalassemia by Capillary Hemoglobin Electrophoresis for Pregnant Women from Shenzhen Region of China / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the cut-off value in screening of thalassemia in pregnant women from Shenzhen region by capillary hemoglobin electrophoresis.</p><p><b>METHODS</b>The data of capillary hemoglobin electrophoresis and genetic diagnosis of thalassemia from 2122 examined prenatal women were retrospectively analyzed. Capillary hemoglobin electrophoresis and α-, β- genetic diagnosis of thalassemia were carried out for every woman. Hemoglobin electrophoresis was performed using Capillarys 2 full-automated electrophoresis instrument. Gap polymerase chain reaction and reverse dot blot were used for genetic diagnosis of thalassemia genotyping test. The cut-off value in screening of thalassemia was determined by receiver operating characteristic curve and next to analyze the value of HbA2 and HbF in screening of thalassemia using the decided cut-off value.</p><p><b>RESULTS</b>The areas under the curve (AUC(Roc)) of HbA2 for diagnosis of α-, β- thalassemia were 0.75 and 0.981 respectively, and the AUC(Roc) of HbF for diagnosis of β-thalassemia was 0.787. When HbA2 ≤ 2.55 was taken as the cut-off value of HbA2 for diagnosis of α-thalassemia, the sensitivity, specificity, positive likelihood ratio (LR(+)) and negative likelihood ratio (LR(-)) were 89.5%, 54.8%, 1.98, 0.19 respectively. When HbA2 ≥3.9 was taken as the cut off value of HbA2 for diagnosis of β-thalassemia, the sensitivity, specificity, LR(+) and LR(-) were 96.1%, 99.8% 480.5, 0.04 respectively. When HbF ≥0.75 was taken as the cut off value of HbF for diagnosis of β-thalassemia, the sensitivity, specificity, LR(+) and LR(-) were 83.6%, 61.8% respectively.</p><p><b>CONCLUSION</b>The cut-off value in screening of thalassemia by capillarys 2 full automated electrophoresis instrument is different from that of the traditional method of hemoglobin electrophoresis, such as cellulose acetate membrane electrophoresis and agarose gel electrophoresis. Each laboratory should establish their own respective cut off value.</p>

Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia

BACKGROUND: In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/ß0-thalassemia.OBJECTIVE: To determine Hb A2 levels as quantified by high performance liquid chromatography in patients with sickle cell anemia (Hb SS) and with the SC hemoglobinopathy, with or without concomitant alpha thalassemia.METHODS: This is a retrospective study of 242 children aged between two and six years with diagnoses of Hb SS or Hb SC. The hemoglobin was evaluated using high performance liquid chromatography and alpha thalassemia [3.7 kb deletion (-a3.7)] was detected by polymerase chain reaction. Patients were classified as homozygous (-a3.7/-a3.7), heterozygous (-a3.7/a), or homozygous wild-type. Analysis of variance was used to compare the mean Hb A2 values between the alpha thalassemia groups.RESULTS: The mean (± standard deviation) Hb A2 concentrations in the Hb SS group (n = 135) was 3.68 ± 0.65%. The mean values for individuals with Hb SS and heterozygous (n = 28) or homozygous for alpha thalassemia (n = 3) were 3.98 ± 0.64% and 4.73 ± 0.25%, respectively. The mean Hb A2 of all the Hb SC patients (n = 107) was 4.01 ± 0.507 with 4.29 ± 0.41% and 4.91 ± 0.22% in individuals heterozygous (n = 23) and homozygous for alpha thalassemia (n = 7), respectively. All patients homozygous for alpha thalassemia had Hb A2 levels above 3.5%. However, Hb A2 values above 5.2% were seen in patients with Hb SS and Hb SC, independently of alpha thalassemia.CONCLUSION: Hb A2 levels are elevated in patients with Hb S or Hb C, and are directly influenced by the alpha thalassemia genotypes.

Comparative analysis of cellulose acetate hemoglobin electrophoresis and high performance liquid chromatography for quantitative determination of hemoglobin A2

BACKGROUND: The present study is designed to evaluate the reliability and cost effectiveness of cellulose acetate Hb electrophoresis and high performance liquid chromatography (HPLC) in the determination of HbA2 levels. METHODS: The test population comprised 160 individuals divided into four groups: normal individuals, beta-thalassemia trait (BTT) patients, iron deficiency anemia (IDA) patients, and co-morbid patients (BTT with IDA). HbA2 levels determined using cellulose acetate Hb electrophoresis and HPLC were compared. RESULTS: HbA2 levels were found to be diagnostic for classical BTT using either method. In co-morbid cases, both techniques failed to diagnose all cases of BTT. The sensitivity, specificity, and Youden's index for detection of the co-morbid condition was 69% and 66% for HPLC and cellulose acetate Hb electrophoresis, respectively. CONCLUSION: This study revealed that semi-automated cellulose acetate Hb electrophoresis is more suitable for use in beta-thalassemia prevention programs in low-income countries like Pakistan. This technique is easily available, simple and cost effective.

De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth

Cyanosis in an apparently healthy newborn baby may be caused by hemoglobin variants associated with the formation of methemoglobin, collectively known as M hemoglobins. They should not be confused with genetic alterations in methemoglobin reductase enzyme systems of red cells since treatment and prognosis are completely different. A newborn male child was noted to be significantly cyanotic at birth and is the basis for this report. Hemoglobin isoelectric focusing, acid and alkaline gel electrophoresis, and HBA/HBB gene sequencing were performed for the child, both parents and a sister. The newborn child was treated with methylene blue in an intensive care unit fearing that he had a defective reductase system and exposure to oxidant drugs or toxins. Newborn hemoglobin screening with high performance liquid chromatography was abnormal on the 10th and 45th days but no conclusive diagnosis was reached. Cyanosis persisted up to four years of age with no other symptoms. Hemoglobin M Iwate [alpha2 87(F8) His>Tyr, HBA2:c.262C>T] was detected. It was not present in the child's presumed mother, father, sister, and brother. The analysis of 15 short tandem repeats in the trio demonstrated a de novo mutation occurrence (p-value < 1 × 10 -8). The family was reassured that no further action was necessary and genetic counseling was provided. Methemoglobins should be considered for differential diagnosis of cyanosis in newborns even if no familial cases are detected. Except for cosmetic consequences, the clinical course of patients with hemoglobin M Iwate is unremarkable.

Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience

Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University Children's Hospital in Korea. Nine children (1alpha thalassemia trait, 6beta thalassemia minor, 2beta thalassemia intermedia) were diagnosed with thalassemia at median age of 4.3 yr old with median hemoglobin of 9.7 g/dL. Seven (78%) children were incidentally found to be anemic and only 2 with beta thalassemia intermedia had presenting symptoms. Five children (56%) were initially misdiagnosed with iron deficiency anemia. Despite the comorbidities due to alpha thalassemia mental retardation syndrome, the child with alpha thalassemia trait had mild hematologic profile. Children with beta thalassemia intermedia had the worst phenotypes due to dominantly inherited mutations. None of the children was transfusion dependent and most of them had no complications associated with thalassemia. Only 1 child (11%) with codon 60 (T-->A) mutation of the HBB gene needed red blood cell transfusions. He also had splenomegaly, cholelithiasis, and calvarial vault thickening. Pediatricians in Korea must acknowledge thalassemia as a possible diagnosis in children with microcytic hypochromic hemolytic anemia. High level of suspicion will allow timely diagnosis and managements.

Comparison of Capillary Electrophoresis with Cellulose Acetate Electrophoresis for the Screening of Hemoglobinopathies / 대한진단검사의학회지

BACKGROUND: beta-thalassemia is primarily found in individuals of Mediterranean and Southeast Asian ancestry. With rapid growth in the Southeast Asian segments of the Korean population, the geographic distribution of hemoglobinopathies is expected to become significantly different from what it is today. In this study, Hb fractions were measured in patients with hypochromic microcytosis to detect thalassemia and Hb variants. To evaluate the feasibility of replacing cellulose acetate electrophoresis (CA) with capillary electrophoresis (CE) in a clinical laboratory, both techniques were performed and the outcomes were compared. METHODS: To evaluate hemoglobinopathies, complete blood cell counts (CBC), CA, and CE were carried out on samples from healthy and microcytic hypochromic groups. The microcytic hypochromic group consisted of 103 patients whose mean corpuscular volume (MCV) was less than 75 fL and mean corpuscular hemoglobin (MCH) was less than 24 pg. Quantitative analysis of Hb fractions was performed on 143 whole blood samples. RESULTS: There was a good correlation for measurements of HbA (r=0.9370, P<0.0001), HbA2 (r=0.8973 P<0.0001), and HbF (r= 0.8010, P=0.0304) between the two methods. In the microcytic hypochromic group, there were 29 cases (28.2%) with decreased HbA2, 2 cases (1.9%) with increased HbA2, 3 cases (2.9%) with increased HbF, and 2 cases (1.9%) with increased HbA2 and HbF. CONCLUSIONS: CE is comparable to CA for reliable measurement of Hb fractions. It is suitable for screening of hemoglobinopathies in many clinical laboratories.

Relative protection from ischaemic heart disease in beta-thalassaemia carriers

To compare the frequency of beta thalassaemia trait in individuals with Ischaemic Heart Disease [IHD] and a control population without IHD. Case control study. Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from September 2007 to May 2009. Using non-probability consecutive sampling, a total of 544 subjects were selected, including 272 IHD patients and an equal number of age and gender matched normal controls. The subjects were tested for the presence of beta-thalassaemia trait by performing their blood counts, haemoglobin electrophoresis and Haemoglobin A2 [HbA2] estimation. Proportions were compared using chi-square test. Odds ratio was also calculated. The frequency of beta-thalassaemia trait was determined in IHD patients and was compared to the frequency in normal Pakistani population. Six out of the 272 control subjects [2.2%] had beta-thalassaemia trait and one of the control subject had Haemoglobin D trait. In contrast, none of the 272 IHD patients had beta-thalassaemia trait. The calculated odds ratio was less than 1, which shows a significant negative association of beta-thalassaemia trait with IHD. The difference in the frequency of beta-thalassaemia trait in the two groups was statistically significant [p=0.033]. The results suggest that betaeta-thalassaemia carriers have some protection against IHD, though it is not an absolute cardio protection due to the role of other risk factors in IHD. This beneficial information may be communicated to the concerned individuals in their counselling sessions and as part of general awareness on thalassaemia

Beta-Thalassaemia trait: haematological parameters

Beta-Thalassaemia syndromes are a group of hereditary disorders characterised by a genetic deficiency in the synthesis of beta-globin chains due to a defect in beta-globin genes. The objective of this study was to determine the haematological features of beta-thalassaemia trait [BTT], and to determine the sensitivity of Mean Corpuscular Volume [MCV], Mean Corpuscular Haemoglobin [MCH] and Mentzer Index [MI] as a screening tool for beta-thalassaemia trait. A descriptive study was conducted in Hayatabad Medical Complex, Peshawar from May 2009 to May 2010 with 203 subjects having BTT. Blood samples were collected in EDTA anti-coagulated tubes. RBC indices were taken as part of complete blood count [CBC] by haematology analyser, and Haemoglobin [Hb] electrophoresis was done to determine the HbA2 percentage. The data was collected and analyzed on statistical software for demographic details, RBC indices and HBA2 levels. Out of 203 patients, 92 [45%] were males and 111 [55%] were females. Most patients tested were in the 15-45 year age group. One-hundred-sixty [79%] patients had anaemia. MCV was lower than 76 fl in all the cases. Mean MCV was 59.1 fl. MCH was low, the mean MCH being 19.3 g/dl. MCH <26 gave sensitivity of 99% in detecting BTT. We calculated MI for these cases and found out that it was <12 in 75% of cases and <15 in 197 [97%]. beta-thalassaemia traits present with a microcytic hypochromic blood picture, detected on simple haematology analysers as low MCV and MCH and MI which provide a useful screening tool for beta- thalassaemia trait