Assuntos
Viscosidade Sanguínea , Isquemia Encefálica/sangue , Adulto , Fatores Etários , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , RiscoRESUMO
Hemoglobin S is rarely found in Caucasians, especially in its homozygous expression. The authors report two cases of homozygotes for Hb S diagnosed in a Romanian family. Ten subjects were investigated, belonging to three generations of the same family, and the following results were obtained: two cases of homozygotes for Hb S; five cases of heterozygotes; three normal subjects. One of the two subjects homozygous for Hb S, a girl aged six, had a severe clinical evolution, typical for homozygous drepanocytosis. The second case, a sister of the first aged two, had a less severe evolution, without splenomegaly and thrombotic accidents. The heterozygote subjects showed no clinical symptoms. The two cases of homozygous Hb S reported are the first cases of sickle-cell disease described in Romania.
Assuntos
Anemia Falciforme/genética , Traço Falciforme/genética , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Romênia , Traço Falciforme/diagnósticoRESUMO
Thirty-two cases of HbS hemoglobinosis diagnosed in nine families of Romania are reported. Of these 26 were HbS trait carriers and 6 were double heterozygous presenting an association of HbS and beta-thalassemia. In the latter, one of the patients was carrier of HbS and the other had minor thalassemia with increased values of HbA2. It is stressed that the patients had a rather mild clinical form of hemolytic anemia, in spite of the very high concentration of HbS in the erythrocytes.
Assuntos
Anemia Falciforme/genética , Adulto , Anemia Falciforme/epidemiologia , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Romênia , Traço Falciforme/epidemiologiaRESUMO
The results obtained by investigations in three Romanian families with HbO Arabia are reported. The presence of this type of hemoglobin was ascertained by clinical, hematological and biochemical examinations. The classification was made on the basis of the structural analysis (fingerprinting and aminoacid analysis). Of the nine cases reported, seven were heterozygotic forms showing no hematological alterations or clinical signs of disease. Two cases were doubly heterozygotic, HbO Arabia associated to beta-thalassemia, showing also alterations of the hematological pattern and clinical signs of hemolytic anemia.