Variantes de hemoglobina en una población con impresión diagnóstica positiva para hemoglobinopatías en Colombia / Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies

Background: Oxygen transport is altered in hemoglobinopathies. Aim: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. Material and Methods: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. Results: The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. Conclusions: The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases.

Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for a and b chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic.

Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India.

Background & objectives: The usefulness of cation exchange high performance liquid chromatography (CE-HPLC) as a tool for detection of thalassaemia/haemoglobin variants was evaluated in a prospective study in a tertiary care centre in north India. We also tried to evaluate the effect of concurrent nutritional deficiency on the HPLC pattern in the local ethnic population. Methods: A total of 800 blood samples were analyzed on the Bio-Rad Variant HPLC system by β-thal short program. The retention times, proportion of the haemoglobin (%), and the peak characteristics for all haemoglobin fractions were recorded. Alkaline and acid haemoglobin electrophoresis was performed to document the identities of the haemoglobin variants, wherever necessary. Many cases were subjected to family studies for a definitive diagnosis. Results: Among 800 samples tested, 553 (69.1%) were found to have normal HPLC pattern. Apart from β- thalassaemia, nine additional variants were encountered; HbS (2.8%), HbE (2.5%) and HbD (1.1%) being the most common variants present. Other variants included Hb Q-India, Hb-Lepore, δβ-thalassemia/ HPFH, HbD-Iran, HbJ-Meerut and HbH disease. There was a significant decrease in the level of HbA2 associated with iron deficiency anaemia (IDA) (P=0.004) and increase in megaloblastic anaemia (P<0.001) among subjects with normal HPLC pattern. Interpretation & conclusions: HPLC was found to be a simple, rapid and reliable method for the detection of hemoglobin variants. An accurate diagnosis can be provided in majority of cases by use of retention time, proportion of total haemoglobin, and peak characteristics of HPLC. Haemoglobin electrophoresis and family studies play a valuable role in difficult cases. Concurrent nutritional deficiency also has an effect on HbA2 levels.

Prevalence of hemoglobinopathies among candidates attending premarital counseling in Bahrain

Hereditary blood diseases in Bahrain is a major health problem. To determine the prevalence of hereditary blood diseases among couples attending Premarital counseling in Bahrain. A cross sectional study involving 1070 individuals attending premarital screening in Bahrain during the period of 1st April and 15[th] May 2006. The study population was 1070 with the mean age 25. 9 +/- 7.1 years, ranged between 14 and 74 years. The prevalence of G6PD was 268 [24%] sickle cell disease [SCD] 14 [1.3%], 175 [16.4%] were sickle cell trait [SCT] in which 22 couples were both carrier, one [0.09%] p thalassemia major, 30 [2.8%] P thalassemia trait in which 3 couples were carrier, 365[34%] individuals with low red blood cell indices, 5 couples both with low indices. Hemoglobinopathies among candidates attending premarital screening in Bahrain is a common problem

Tamizaje de hemoglobinopatías en muestra de la población infantil de Cartagena

Se llevó a cabo un estudio de hemoglobinopatías en una muestra de la población infantil de la ciudad de Cartagena, analizandosa un total de 230 pacientes, 130 masculinos (56,5 por ciento) y 100 femeninos (43,4 por ciento); se encontraron 23 muestras con alteraciones en las hemoglobinas, lo que representa una frecuencia del 10 por ciento

The problem of thalassemia in Thailand.

About one per cent of the Thai population are affected with thalassemic diseases. In each year there are almost 50,000 pregnancies at risk of having an affected fetus, one fourth of which result in thalassemic newborns. Both alpha- and beta -thalassemia, including hemoglobins E and Constant Spring, are common in Thailand. Their distribution varies from region to region and among different ethnic groups. About 30-40% of the population are carriers of at least one of the abnormal genes. Thalassemias and hemoglobinopathies are common and heterogeneous in Thailand. They combine to give more than 60 thalassemic syndromes with varying clinical severity. Abnormalities can be detected in every organ system. Studies in detail into each clinical problem will lead to better management. Hematological and molecular studies on different types of thalassemia in Thailand have made it possible to give prenatal diagnosis service to those pregnancies at risk of having a thalassemic child. Sporadic services have been given in three centers. Systematic prevention and control program is being planned by the cooperation of both the public and private sectors.

Enfermedad drepanocitica: estudio de 52 casos; Hospital Universitario de Caracas / Sichle cell diseases: case of study 52; Hospital Universitario of Caracas 1973-1982

Se describen los diferentes hallazgos clínicos en cincuenta y dos pacientes con Anemia Drepanocítica, observandose su mayor frecuencia en la segunda y tercera década de la vida, sin predominio del sexo, siendo la HbSS la más frecuente del grupo. Se han referido a la Anemia Drepanocítica como enfermedad Drepanocítica, analizándose sus diversas manifestaciones Cardio-Pulmonares, Gastro-Intestinales, Osteoarticulares, Genito-Urinarias, oculares y en el sistema nervioso. Así como las crisis, sus tipos, frecuencia, características clínicas y evolutivas, las complicaciones descubiertas, las infecciones y causas de muerte. Se considera un problema de Salud Pública en las investigaciones realizadas en Venezuela e internacionalmente