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.