[Hemoglobinopathy Newcastle: use of chromatography and first case reported in Spain].
OBJECTIVE
Unstable hemoglobins (Hb) show amino acid substitutions in critical places that produce a decrease of molecular solubility facilitating its denaturalization and precipitation. We describe the first case of Hb Newcastle in Spain.


METHODS
5 year-old girl who came to visit due to fever over 4 days. Physical examination disclosed pale skin with subicteral mucosaes and splenomegaly. Lab analysis disclosed: Hb, 79 g/l; haematocrit, 0.27 l/l, mean corpuscular volume 93.4 fl, and reticulocyte count of 3%, along with anysocytosis and polychromasia.


RESULTS
Hemoglobin heat stability test was positive. Hemoglobin electrophoresis showed a low band at HbA2. High performance liquid chromatography (HPLC) showed an Hb peak corresponding to the 12% of total Hb. Beta globin gene sequentiation showed the CD92 His --> Pro mutation Hb Newcastle in heterocygote condition in patient and her mother.


CONCLUSIONS
Hb Newcastle has been described in 3 patients of English, Russian and Chinese origin. Clinical manifestation is chronic hemolytic anemia with severe crisis after oxidant drugs ingestion or infections. By using the electrophoretic method, a diffuse pattern of Hb bands between HbA and HbA2 is observed, difficulting the precise identification of the abnormal Hb. This inconvenience is overcomed by using HPLC that allows the clear identification of the abnormal Hb Newcastle.
Mañú Pereira
María Mar
MM
Unidad de Eritropatología, CDB-IDIBAPS, Hospital Clínic i Provincial, Barcelona, España. m.del.mar@terra.es
Coll Sibina
María Teresa
MT
García Mateos
Estefanía
E
Vives Corrons
Joan Lluís
JL
D002391:Catchment Area, Health; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D003937:Diagnosis, Differential; D005006:Ethnicity / Q000706:statistics & numerical data; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D013030:Spain / Q000453:epidemiology