RESUMO
We report a long-term follow-up of unstable hemoglobin (Hb) patient. He was diagnosed as Hb Madrid [beta115(G17)Ala-->Pro] by direct DNA sequencing and restriction enzyme analysis. Hydroxyurea had been given for beta-chain hemoglobinopathies through activation of gamma(gamma)-chain synthesis. Nowadays he still needs transfusion three or four times per year, but he had been free of hemolytic crisis after hydroxyurea. Although he has been treated for hemochromatosis with parenteral and oral iron-chelating agents, liver cirrhosis complicated by esophageal varix was developed and treated with endoscopic ligation. In addition, he is on warfarin maintenance for anticoagulation therapy for extensive portal vein and superior mesenteric vein thrombosis which presented with abdominal pain and diagnosed by CT scan. In management of unstable Hb patients, physician should monitor and control the serum ferritin level with iron-chelating agents, and be aware of possible long-term complication including hemochromatosis, cirrhosis or thromboembolism.
Assuntos
Humanos , Dor Abdominal , Varizes Esofágicas e Gástricas , Ferritinas , Fibrose , Seguimentos , Hemocromatose , Hemoglobinopatias , Hemoglobinas , Hemoglobinas Anormais , Hidroxiureia , Ligadura , Cirrose Hepática , Veias Mesentéricas , Compostos Organotiofosforados , Veia Porta , Mapeamento por Restrição , Análise de Sequência de DNA , Tromboembolia , Trombose , VarfarinaRESUMO
We report a long-term follow-up of unstable hemoglobin (Hb) patient. He was diagnosed as Hb Madrid [beta115(G17)Ala-->Pro] by direct DNA sequencing and restriction enzyme analysis. Hydroxyurea had been given for beta-chain hemoglobinopathies through activation of gamma(gamma)-chain synthesis. Nowadays he still needs transfusion three or four times per year, but he had been free of hemolytic crisis after hydroxyurea. Although he has been treated for hemochromatosis with parenteral and oral iron-chelating agents, liver cirrhosis complicated by esophageal varix was developed and treated with endoscopic ligation. In addition, he is on warfarin maintenance for anticoagulation therapy for extensive portal vein and superior mesenteric vein thrombosis which presented with abdominal pain and diagnosed by CT scan. In management of unstable Hb patients, physician should monitor and control the serum ferritin level with iron-chelating agents, and be aware of possible long-term complication including hemochromatosis, cirrhosis or thromboembolism.
Assuntos
Humanos , Dor Abdominal , Varizes Esofágicas e Gástricas , Ferritinas , Fibrose , Seguimentos , Hemocromatose , Hemoglobinopatias , Hemoglobinas , Hemoglobinas Anormais , Hidroxiureia , Ligadura , Cirrose Hepática , Veias Mesentéricas , Compostos Organotiofosforados , Veia Porta , Mapeamento por Restrição , Análise de Sequência de DNA , Tromboembolia , Trombose , VarfarinaRESUMO
Unstable hemoglobins (Hb) are variants of adult Hb that tend to precipitate and form insoluble inclusions (Heinz bodies) within red blood cells (RBC) and RBC precursors. More than 100 structurally different unstable Hb variants showing broad spectrum of manifestations from asymptomatic to severe hemolytic anemia and dyserythropoiesis have been discovered. Hydroxyurea is a potent ribonucleotide reductase inhibitor and have been proposed as a new therapy for beta chain hemoglobinopathies through activation of gamma chain synthesis. We treated two patients (A : son, B : father) with highly unstable Hb diagnosed as Hb Madrid [Beta 115(G17)Ala->Pro] by direct DNA sequencing and restriction enzyme analysis. Our patients received hydroxyurea in dosages varying from 0.75g to 1.3g daily for 89 weeks. We could not show the clinical and hematological improvements after hydroxyurea therapy in thses patients. Optimization of dosage and long term side effects of hydroxyurea should be studied further.