Haemoglobin Q (Hb Q), a relatively uncommon alpha-chain structural Hb variant, has been reported either in the heterozygous state or interacting with beta-thalassaemia. Individuals inheriting Hb Q generally are asymptomatic and are diagnosed by chance during population screening or as a part of a family study. This paper represents the first large study from India of 64 cases of Hb Q, documenting the haematological and molecular findings on 36 cases of Hb Q trait, 22 of Hb Q beta-thalassaemia trait and three of Hb Q beta-thalassaemia major, as well as a family of Hb Q homozygous cases. Hb Q is detected by Hb electrophoresis and chromatography. Hb Q levels in homozygous cases ranged from 32% to 35%, while in Hb Q heterozygotes the level was 20%. When there was an interaction of beta-thalassaemia heterozygotes the level was 14%, and in interacting beta-thalassaemia homozygotes the levels ranged from 7% to 9%. beta-thalassaemia mutations were characterised in cases showing elevated Hb A2 levels, which were markedly reduced in the majority of cases in which beta-thalassaemia was absent. Hb Q is rare and not a single homozygous case has been reported. However, Hb Q disease showed wide variation in clinical and haematological presentation in the same family.

Background:Our blood bank is a regional blood transfusion centre, which accepts blood only from voluntary donors.Aim:The aim is to study iron status of regular voluntary donors who donated their blood at least twice in a year.Materials and Methods:Prior to blood donation, blood samples of 220 male and 30 female voluntary donors were collected. Control included 100 each male and female healthy individuals in the 18- to 60-year age group, who never donated blood and did not have any chronic infection. In the study and control groups, about 10% subjects consumed non-vegetarian diet. After investigation, 85 males and 56 females having haemoglobin (Hb) levels above 12.5 g/dl were selected as controls. Donors were divided into ≤10, 11-20, 21-50 and >50 blood donation categories. Majority of the donors in >50 donation category donated blood four times in a year, whereas the remaining donors donated two to three times per year. Haematological parameters were measured on fully automatic haematology analyzer, serum iron and total iron-binding capacity (TIBC) by biochemical methods, ferritin using ELISA kits and transferrin using immunoturbidometry kits. Iron/TIBC ratio × 100 gave percentage of transferrin saturation value.Statistical Analysis:Statistical evaluation was done by mean, standard deviation, pair t-test, χ2 and anova (F-test).Results:Preliminary analysis revealed that there was no significant difference in the iron profile of vegetarian and non-vegetarian subjects or controls and the donors donating <20 times. Significant increase or decrease was observed in mean values of various haematological and iron parameters in donors who donated blood for >20 times (P < 0.001), compared to controls. Anaemia, iron deficiency and depletion of iron stores were more prevalent in female donors (P < 0.05) compared to males and especially in those male donors who donated their blood for more than 20 times.Conclusion:Regular voluntary blood donors should receive iron supplementation to prevent iron deficiency and depletion in iron stores.

In 107 Rh(D)-immunized women having Rh(D)-positive pregnancy screening for IgG subtypes was carried out between the 34th and 36th week of gestation. Using polyclonal IgG subtype-specific reagents, all four IgG subclasses were detected in anti-D sera though IgGl and IgG3 were the most predominant classes. IgG3 anti-D was usually low titre. At the same level of Rh(D) antibody titre, haemolytic disease of the new-born was more severe when anti-D was IgGl type than IgG3 type. When the IgGl and IgG3 anti-D subtypes existed together, the risk of having a stillborn child was very high compared to other subtypes (IgG1 + IgG3 34.8%, IgG1 19.2% and IgG3 15.4%).

Background:Storage time of blood components plays a major role in the accumulation of cytokines causing adverse transfusion reactions.Aims:The aim was to study the trend in the levels of interleukin-6 (IL-6), IL-8, tumor necrosis factor-alpha (TNF-α) and regulated upon activation, normal T-cells expressed and secreted (RANTES) during storage of whole blood (WB) and red cell concentrate (RCC) and to study the effect of leukoreduction (LR).Materials and Methods:WB sample was taken on 0, 7, 14, 21, and between 28 and 35 days and plasma aliquots were frozen. Samples from RCC and buffy-coat depleted RCC prepared using Optipress II were collected on 0, 7, 14, 21 and between 28 and 35 days. Cytokine estimation was done using ELISA development kits. Normal range of cytokines was established using 0 day samples of WB. Statistical analysis was done using nonparametric tests.Results and Conclusion:The normal range of IL-6 was 0-23 pg/ml, IL-8 0-12 pg/ml, TNF-α 0-3 pg/ml, and RANTES 1200-2000 pg/ml. IL-6 was in normal range and showed a decreasing trend during storage. IL-8 levels increased significantly from 0 to 35 days. In RCC, the highest level was 480 pg/ml on 28th day. It was in the normal range in buffy-coat depleted RCC up to 28 days. RANTES level was significantly low in buffy-coat depleted RCC compared to RCC. We conclude that WB has high levels of IL-8 and RANTES. The levels of cytokines are affected by storage period and LR. Comparison of WB and buffy-coat depleted RCC shows significantly low levels of IL-6, IL-8, and RANTES in buffy-coat depleted RCC. This study emphasizes the use of red cell components instead of WB and buffy-coat depleted RCC instead of RCC.

The D antigenic sites are diminished in weak D and partial D variants. The aim of this study was to estimate D antigen on RBC in weak D and partial D variants in Indian population by using flow cytometric method. Blood samples of 42 cases of partial D, eight cases of weak D and 123 normal Rh phenotypes identified by serological methods were used in the study. An indirect immunofluorescence method was employed using 29 monoclonal anti-D as primary antibody. The D antigenic sites were calculated using control RBC as internal standard. The D antigenic sites in weak D and partial D variants are less than that found in normal Rh phenotypes. In weak D, the D antigenic sites were between 1500 and 7000 D antigens per cell. Among partial D variants, DVI had minimum and DVa had maximum number of D sites. Flow cytometry is a very good tool for demonstrating minor variation in D antigen when serological methods are inconclusive. The D antigenic sites per RBC in partial D variants identified in Indian population are reported for the first time.

Purpose Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat. Method Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and confirmation by HPLC. Husbands of the pregnant women having hemoglobinopathies were counseled and screened for hemoglobinopathies. The couples at risk were again counseled and referred to the National Institute of Immunohematology, where mutations in parents and fetuses were identified by molecular analysis. After prenatal diagnosis, the continuing pregnancies were followed up and infants were tested at birth.Results Out of 3,009 women, 37.04, 52.6, and 10.3 % were in the first, second, and third trimester of pregnancy, respectively. Among those having hemoglobinopathies, 102 (3.38 %) had the b-thalassemia trait, 46 (1.5 %) the Sickle cell trait, and 26 (0.86) had hemoglobin variants like Hb D Punjab , Hb E, Hb D Iran , Hb Q India , Hb J Paris-I , and Hb O Indonesia . Out of the 14 couples at risk of having an affected child, 11 (78.5 %) couples opted for prenatal diagnosis. Three fetuses had homozygous b-thalassemia and hence the pregnancies were terminated. Follow up of normal or heterozygous fetuses confirmed the diagnosis. Conclusion During antenatal screening, we found many Hb variants of b and a globin chains. Late antenatal registration, non-cooperation of the husband for investigation, and refusal for prenatal diagnosis are the main hurdles in the hemoglobinopathy prevention program and awareness is necessary.

OBJECTIVE:To Screen of South Gujarat population for determination of prevalence of different hemoglobinopathies particularly beta thalassemia trait (BTT) and sickle cell trait (SCT) and find out the incidence of anemia in them.MATERIAL AND METHODS:The present study screened 32,857 samples of students from different school and colleges in South Gujarat. Blood samples were initially tested for solubility test and complete hemogram on hematology analyzer. Samples having MCV (≤78), MCH (≤28) and/or positive solubility test were investigated for Hb electrophoresis on cellulose acetate membrane (pH 8.6). Hb A2 level ≥3.5% was considered as diagnostic for BTT. High performance liquid chromatography on Biorad Hb variant system was done on samples having doubtful results.RESULT:Overall prevalence of BTT and SCT in South Gujarat was 4.4% and 1.3% respectively. Gamit, Vasava, Chaudhary, and Mahyavanshi castes had high prevalence of BTT (15.9%, 13.6%, 12.6%, and 6.9%) as well as SCT (22.2%, 15.2, 22.3, and 4.2%) respectively. Other communities like Lohana (10.8%), Sindhi (10.2%), Prajapati (6.3%), and Ghanchi (6.2%) also showed higher prevalence of BTT. Incidence of mild to moderate anemia was higher in BTT and SCT compared to non-BTT or non-SCT subjects.CONCLUSIONStudy suggests that BTT is the most prevalent hemoglobinopathy in South Gujarat. β-thalassemia and Sickle cell anemia are highly prevalent in Mahyavanshi, Chaudhary, Gamit, Vasava and Rohit. Prajapati, Lohana, Leva Patel, and Ghanchi have β- thalassemia risk. SCT is more frequently detected in Dhodia Patel and Kukanas.

Partial D is of clinical importance as the partial D-positive individuals who lack some epitopes of D antigen can develop anti-D if exposed to normal D antigen. The frequency of partial D varies in different populations. The majority of molecular studies on D variants have been reported in European, African and some East Asian populations, but no study has been reported in the Indian population so far. The aim of the study was to screen Indian population for detection of partial D by serology and classify them by multiplex polymerase chain reaction (M-PCR). The study population, consisting of 10,000 RhD-positive individuals from West India, was screened for detection of partial D using the partial D kit. In addition to these, blood samples referred because of serological RhD discrepant results from blood banks of West India were also investigated. The samples identified as partial D from these two groups were further characterized by M-PCR. Fifteen partial D cases were identified by population screening and 45 were identified from referred samples. Population screening revealed that one third of partial D was DFR when tested by partial D kit. We were able to classify 63.4 and 76.6% of partial D by partial D kit and M-PCR, respectively. The incidence of partial D in West India was found to be at least 0.15% when tested with partial D kit. DFR partial D was found to be predominant in the present study.