Clin Pediatr Hematol Oncol.  2013 Apr;20(1):55-58.

Long-term Follow-up of Hb Madrid Patient

• Koo DH
• Oh S
• Kim HJ
• Jung HL

Abstract

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.

Keyword

Hb madrid; Follow-up study; Hemochromatosis; Thrombosis; Complications

MeSH Terms

Abdominal Pain
Esophageal and Gastric Varices
Ferritins
Fibrosis
Follow-Up Studies
Hemochromatosis
Hemoglobinopathies
Hemoglobins
Hemoglobins, Abnormal
Humans
Hydroxyurea
Ligation
Liver Cirrhosis
Mesenteric Veins
Organothiophosphorus Compounds
Portal Vein
Restriction Mapping
Sequence Analysis, DNA
Thromboembolism
Thrombosis
Warfarin
Ferritins
Hemoglobins
Hemoglobins, Abnormal
Hydroxyurea
Organothiophosphorus Compounds
Warfarin