Causes of Abnormal Hemoglobin Electrophoresis / 中国实验血液学杂志

OBJECTIVE@#To investigate the possible causes of abnormal hemoglobin electrophoresis results.@*METHODS@#The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed.@*RESULTS@#The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of β thalassemia and 9 cases of αβ thalassemia. Among the patients with elevated HbA2, 68.67% were detected β thalassemia, 3.00% αβ thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J.@*CONCLUSION@#Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.

Principales causas de muerte en adultos con hemoglobinopatías / Main causes of death in adults with hemoglobin disease

Se efectuó un estudio descriptivo y retrospectivo de los 22 fallecidos con diagnóstico de hemoglobinopatías en el Servicio de Hematología del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, desde enero de 2008 hasta diciembre de 2012, con vistas a identificar las manifestaciones clínicas que ocasionaron complicaciones fatales. En la serie predominaron la intensificación del íctero como causa principal de ingreso y el tromboembolismo pulmonar, las infecciones y la insuficiencia hepática como causas de muerte demostradas por necropsia, aunque esta solo se realizó a 22,7 % de los fallecidos; también se observó que la curva de supervivencia comenzó a declinar a partir de los 20 años en el sexo masculino y de los 30 en el femenino. Las diferentes causas de muerte estuvieron relacionadas con el daño orgánico progresivo, de manera que fueron identificados los órganos más afectados, para poder establecer así pautas preventivas en el seguimiento de los pacientes con esta enfermedad, a fin de minimizar las crisis vasooclusivas que contribuyen a complicaciones y muerte temprana.

A descriptive and retrospective study of the 22 dead with diagnosis of hemoglobin disease in the Hematology Service of "Dr. Juan Bruno Zayas Alfonso" Teaching General Hospital in Santiago de Cuba, was carried out from January, 2008 to December, 2012, aimed at identifying the clinical manifestations that caused fatal complications. In the series the icterus intensification prevailed as main cause of admission and the pulmonary thromboembolism, the infections and the hepatic failure as causes of death demonstrated by autopsy, although this was only carried out to the 22.7% of the dead; it was also observed that the survival curve began to decline starting from the 20 years in the male sex and from the 30 years in the female sex. The different causes of death were related to the progressive organic damage, so that the most affected organs were identified, to be able to establish preventive rules in the follow up of the patients with this disease, in order to minimize the vasooclusive crises that contribute to complications and early death.