We describe a two-year-oldwith mild anemia and marked microcytosis of unclear etiology. Hematologic evaluation suggests an apparent HbCC disease or HbCβ0 thalassemia. Parental testing and routine genetic analysis could not provide a definitive diagnosis. Advanced genetic analyses with SOMA and qPCR were required to uncover a large de novo deletion of the beta globin locus revealing HbCεγδβ0 tha...

A brief survey of abnormal hemoglobin variants among the major ethnic groups of Karachi was conducted; 202,600 subjects were studied. Patients with low hemoglobin (Hb), low mean cell volume (MCV) and mean cell hemoglobin (MCH) including anemia, microcytosis, hypochromic hemolysis and target cells, were refered for the identification of hemoglobinopathy by molecular methods. Population screening...

Hematologic evaluation of a 5-yr-old girl from the child and from both of her parents with lifelong anemia demonstrated the an abnormal balance between the synthecharacteristic findings of congenital dyssis of the a and non-a globin components erythropoietic anemia (CDA) type II. of hemoglobin was observed, the a chains Globin chain synthesis was studied in vitro being synthesized in excess. Ne...

Recently, ithas been demonstrated thatthe offspring of one parent with the sickle cell trait and one w’ith thalassemia may develop a severe hemolytic anemia with some of the characteristics of both thalassemia and sickle cell disease, ineluding microcytosis and numerous sickled erythrocytes in the blood film. This syndrome has been called mi(’rodrepanocytic,9 or sickle cell-thalassemia, disease...

Microcytic Anemia Anemia is the most common hematologic abnormality that pediatricians encounter. The differential diagnosis for anemia in children includes congenital, acquired, benign, malignant, common, and extraordinarily rare disorders. Thankfully, most conditions cause consistent changes in the mean cell volume (MCV) of red blood cells (RBCs) and can be grouped by using this parameter. In...

records, she was known to be a carrier of 5PN deficiency. The proposita’s hematological parameters were as follows: Hb: 10.7 g dL—1; Hct: 34%; RBC: 4.35 x 106; MCV: 77 fL; MCH: 24.7 pg; RDW: 16.2%; reticulocytes: 3.97%; ferritin: 30 (normal range=20-81ngr/Ml). Microscopic examination of a stained peripheral blood smear showed severe anisocytosis, microcytosis, and basophilic stippling. Biochemi...

A 67-year-old womanwith pulmonary embolism was suspected to have /J-thalassemia based on microcytosis, hemolysis and a negative red cell stability test. The DNAsequencing analysis of /3-globin gene, however, revealed the deletion of three nucleotides within codon 127-128, leading to substitution of glutamine and alanine residues at 127 and 128 by proline, namely Hb Gunma. This mutant is charact...

To investigate the possible causes of an increased incidence of red cell microcytosis in Asian children, 204 Gujarati Asian children and 88 European children attending community infant welfare clinics underwent initial screening tests for determination of red cell indices. Seventy six Asian (37%) and nine European (12%) children had microcytic red cells (mean corpuscular volume <74 fl). Further...

A 84-year-old woman with a long-standing history of progressive exertional dyspnea and fatigue was assessed for concomitant anemia. She also had coronary artery disease, chronic obstructive pulmonary disease, hypertension, and gout. Her hemoglobin was 109 g/L with a mean corpuscular volume of 76.1 fL and red blood cell distribution width (RDW) at 19.4%. White cell count including differential a...