RESUMO
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.
Assuntos
Hemoglobinas Anormais , Adulto , Alanina , Sequência de Aminoácidos , Aminoácidos/análise , Ácido Aspártico , Humanos , Irã (Geográfico) , Masculino , TirosinaRESUMO
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.
Assuntos
Hemoglobinopatias/genética , Hemoglobinas Anormais/análise , Eletroforese das Proteínas Sanguíneas , Fenômenos Químicos , Química , Criança , Heterozigoto , Humanos , Masculino , Linhagem , FenótipoRESUMO
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.
Assuntos
Hemoglobinas Anormais/análise , Aminoácidos/análise , Asparagina , Ácido Aspártico , Quimotripsina , Feminino , Humanos , Irã (Geográfico) , Pessoa de Meia-Idade , Fragmentos de Peptídeos/análise , TemperaturaRESUMO
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.
