Biomedical subjects
Publications and source records attributed to S Rahbar.
Hemoglobin Hammersmith was detected in a five year old white female suffering from severe anemia first noted at 18 months of age. She has been splenectomized and her peripheral blood red cells were found to contain inclusion bodies.
Hemoglobin Great Lakes, beta 68 (E12) Leu replaced by His is a new high oxygen affinity hemoglobin variant discovered in a 29-yr-old female having numerous hospitalizations for thrombophlebitis associated with mild erythrocytosis. The mutant hemoglobin has normal stability and normal electrophoretic mobility, but increased oxygen affinity (P-50 16.1 mm Hg at 37 degrees C, pH 7.4) and reduced cooperativity. The abnormal beta-chain could be separated on globin chain chromatography on carboxymethyl/cellulose in spite of the normal electrophoretic mobility of the intact hemoglobin. The leucyl residue at beta 68th position (E12) is in the middle of E-helix, which is part of the heme pocket and next to the valine (E11), which is the heme binding site. The substitution of proline for leucine in hemoglobin Mizuho resulted in the distortion of tertiary structure of the beta-chains and lead to a serious instability of hemoglobin molecule. However, the substitution of this residue by histidine in hemoglobin Great Lakes is not associated with hemoglobin instability.
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In a survey for abnormal haemoglobin variants in voluntary blood donors in Iran, a new variant was found in a young male who presented no clinical symptoms. It had the same electrophoretic mobility as haemoglobin D in alkaline buffers. Separation of the constituent polypeptide chains in acid urea buffer revealed it to be different from haemoglobin D previously found among Iranians. Analysis of its structure demonstrated a substitution to alanine (beta 47 Asp replaced by Ala) in the same residue as involved in haemoglobin G-Copenhagen (beta 47 Asp replaced by Asn).
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Waldenstrom's macroglobulinemia was studied in a 46 year old Iranian male with anemia, bleeding, ecchymose and splenomegaly. The diagnosis of Macroglobulinemia was established by the presence of very high level of IgM paraprotein in sera which was detectable by immunoelectrophoresis and rocket immunoelectrophoresis, and by the presence of bone marrow infiltration of plasmocytes. Family studies revealed a high IgM level in one of the patient's daughters.
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Haemoglobin MBoston is described in a 19 year old Iranian male, his father and three out of his five brothers and sisters which were cyanotic from the birth. The presence of haemoglobin M was established after starch-gel electrophoresis of the ferricyanide treated haemolysate at pH 7.1 and by spectroscopic examination of the purified abnormal haemoglobin at pH 6.5.
Two new haemoglobins are described which were found during a regular survey on voluntary blood donors in Iran. They are haemoglobin Perspolis [alpha 64 (E13) Asp leads to Tyr] and haemoglobin J-Kurosh [alpha 19 (AB) Ala leads to Asp]. The amino acid substitution in these two variants was determined by fingerprinting and amino acid analysis of the tryptic peptides and thermolytic peptides derived from abnormal tryptic peptides. Neither haemoglobin was associated with clinical symptoms.
A new haemoglobin variant (haemoglobin Arya), is described from an Iranian female. The substitution is at residue 47 (CD5) of the alpha chain in which aspartic acid has been substituted by asparagine. The presence of haemoglobin Arya was not associated with clinical symptoms. This variant has normal stability at 50 degrees C, but is slightly unstable when tested at 55 degrees C.
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During surveys for abnormal hemoglobins in Iran, an individual was found to have four electrophoretically distinct hemoglobins. The abnormality was found only in the father of the propositus, in two of the father's sisters, and in three brothers and sisters of the propositus. Investigations revealed that the four hemoglobin components are the result of a double heterozygosity between an alpha-chain variant (Hb OIndonesia) and a beta-chain variant (Hb DPunjab). The presence of the abnormal hemoglobins was not associated with hemolytic disorders or obvious clinical symptoms.
Homozygous haemoglobin LeporeBoston disease is described in an Iranian 16-year-old boy presenting the clinical manifestations of BETA-thalassaemia major. The parents were related (cousins), and both carriers of Lepore trait. It seems that the symptoms are milder in this case than what reported before.
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