Molecular and hematological characterization of hemoglobin H disease in the Bengali population of Kolkata, India.

This article reports the incidence of hemoglobin H (HbH) disease among the nontribe Bengali population living in South 24-Parganas of West Bengal. Among 105 patients with unexplained anemia with moderate hematological parameters referred to our laboratory over a period of 2 years, 17 cases (16.19%) were found to have HbH disease identified by hemoglobin electrophoresis.

Study of inherited metabolic disorders in Singapore - 13 years experience.

Introduction: Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience.

External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders.

Introduction: This paper shows the importance and value of external proficiency testing programmes in monitoring and improving a laboratory's diagnostic skills. It reviews and documents the wide variety of inherited metabolic disorders (IMDs) encountered in the programmes organised by the Human Genetics Society of Australasia and the College of American Pathologists.

Materials And Methods: The programmes used actual patient specimens to assess a laboratory's ability to provide diagnoses based on laboratory tests results and brief clinical information.

Plasma and urine amino acid profiles in a healthy adult population of Singapore.

Introduction: The analysis of amino acids in plasma and urine was introduced in Singapore when a laboratory for the investigation of inherited metabolic disorders was established by the Ministry of Health. Reference ranges are required for interpreting test results and making diagnoses. Initially, reference ranges established for Caucasians were used as there were no local data and we were unable to find data obtained by the same analytical method for Asian populations.

Alpha-thalassemia among tribal populations of Eastern India.

Five hundred and thirteen unrelated subjects belonging to various tribes of West Bengal, Arunachal Pradesh and Assam in Eastern India, were screened for the presence of alpha-thalassemia (thal) gene deletion(s) as a possible cause of unexplained anemia (Hb < 11 g/dL and/or MCH <28 pg, MCV < 78 fL). As reported earlier, beta-globin gene mutant alleles were found with a frequency of up to 20% in some tribes. In the present study, alpha-globin gene deletion alleles were found in 18% of subjects from West Bengal, 3.