ABSTRACT
We have investigated hemoglobin O Indonesia (HbOIna) in related ethnic populations of the Indonesian archipelago: 1725 individuals of the five ethnic populations of South Sulawesi (Bugis, Toraja, Makassar, Mandar, and Kajang) and 959 individuals of the neighboring islands, who were divided into five phylogenetic groups: (a) Batak; (b) Malay from Padang, Pakanbaru, and Palembang in the island of Sumatra; (c) Javanese-related populations (Java, Tengger, and Bali) from the islands of Java and Bali; (d) populations of the Lesser Sunda Islands of Lombok, Sumba, and Sumbawa; and (e) the Papuan-languagespeaking population of Alor Island. Nineteen individuals heterozygous for HbO(Ina) were identified from the Bugis, Toraja, Makassar, and Kajang ethnic populations, but none from the other populations. In all cases, the underlying mutation was found to be in codon 116 (GAG to AAG) of the alpha1-globin gene, resulting in the Glull6Lys amino acid change. The level of HbO in the 17 individuals plus 12 additional family members carrying the mutation was found to be 11.6 +/- 1.0%, significantly lower than the expected 17%-22%, indicating the instability of HbO.
Subject(s)
Ethnicity/genetics , Hemoglobins, Abnormal/genetics , Mutation , Amino Acid Substitution , Asian People/genetics , Base Sequence , DNA Primers , Demography , Erythrocyte Count , Female , Genetic Carrier Screening , Globins/genetics , Hematocrit , Humans , Indonesia , Male , Phenotype , Phylogeny , Polymorphism, Restriction Fragment Length , Restriction Mapping , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
The spectrophotometric measurement of hemoglobin performed with a well standardized instrument using venous blood is widely accepted as a reference standard for anemia. In developed countries automated electronic counters are used instead. However, this method of determining anemia is not practical for screening in developing countries as it requires special skill or expensive equipment to obtain the specimen or to perform the test. The primary objective of this study was to determine the feasibility of using capillary microhematocrit measurement as a screening test for anemia. The 104 patients examined ranged in age from 6 months to 6 years; 65 were males and 36 females. Sixty one of the 104 cases (58.7%) were below 2 years of age and the other 43 cases (41.5%) were older than 2 years. Hemoglobin values ranged from 2.7-13.5 g/dl and capillary microhematocrit ranged from 9-41%. Analysis of the result showed a significant correlation between the capillary microhematocrit values and the capillary hemoglobin values (r = 0.99 and p less than 0.001). The sensitivity of the microhematocrit method for detecting anemia was 91.11% and the specificity was 89.83%. The predictive value for a normal (negative) microhematocrit was 92.98% and the predictive value for a low (positive) microhematocrit was 87.23%. We conclude from this study that the capillary microhematocrit measurement method can be appropriately used as a screening test for anemia.
