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[Comparison between phlebotomy and erythrocytapheresis of iron overload in patients with HFE gene mutations]. / Comparación de la flebotomía con eritrocitaféresis en la sobrecarga de hierro en portadores de mutaciones del gen HFE.

BACKGROUND AND OBJECTIVE: Large-volume erythrocytapheresis (EA) is an useful and speedy method to treat iron overload (IO). We assesed the efficacy of EA in patients with HFE gene mutations and IO compared to the classical phlebotomies. PATIENTS AND METHOD: Data from 9 patients with IO treated with EA, using a discontinuous flow cell separator as a single needle procedure, for a period of 2 years, were compared to 9 matched patients who underwent conventional phlebotomies. RESULTS: The mean volume of red blood cells removed in each EA was 275 ml, with a median reduction of 23 g/l for haemoglobin and 55 microg/l for serum ferritin levels (vs. 17 microg/l between phlebotomies). The liver function test returned to normal values in 4 out of 5 patients undergoing EA, but none of the phlebotomies. The time required to achieve iron depletion was 3 times shorter in EA group. CONCLUSIONS: EA is an effective and safe procedure that achieves iron depletion more quickly than manual phlebotomies. Nevertheless, to determine its cost-effectiveness, economical, prospective, randomized studies are warranted.

Comparación de la flebotomía con eritrocitaféresis en la sobrecarga de hierro en portadores de mutaciones del gen HFE / Comparison between phlebotomy and erythrocytapheresis of iron overload in patients with HFE gene mutations

Fundamento y objetivo: Aunque la sangría terapéutica se considera el tratamiento de elección de la sobrecarga férrica (SF), la eritrocitaféresis (EA) se presenta como un método seguro y rápido para retirar el exceso de hierro, sin pérdida asociada de volumen, plasma ni plaquetas. En este estudio se compara la eficacia de la EA con la del método clásico. Pacientes y método: Se revisaron los datos de 9 pacientes con SF tratados con EA, mediante separador celular automático de flujo discontinuo por unipunción, en 24 meses, y se compararon con los de 9 pacientes apareados tratados con sangrías. Resultados: En cada EA se retiraron 275 ml de eritrocitos, con reducción de 23 g/l de la hemoglobina y de 55 µg/l de la ferritina, frente a los 17 µg/l de la sangría, lo que redujo a un tercio el tiempo requerido para la depleción férrica. Las pruebas hepáticas se normalizaron en el 80% de los pacientes con EA, y en ninguno de los tratados con sangría. Conclusiones: La EA es segura, efectiva y más rápida que las sangrías para eliminar la SF, aunque se necesitan estudios económicos aleatorizados para determinar si es además una alternativa coste-efectiva

Background and objective: Large-volume erythrocytapheresis (EA) is an useful and speedy method to treat iron overload (IO). We assesed the efficacy of EA in patients with HFE gene mutations and IO compared to the classical phlebotomies. Patients and method: Data from 9 patients with IO treated with EA, using a discontinuous flow cell separator as a single needle procedure, for a period of 2 years, were compared to 9 matched patients who underwent conventional phlebotomies. Results: The mean volume of red blood cells removed in each EA was 275 ml, with a median reduction of 23 g/l for haemoglobin and 55 µg/l for serum ferritin levels (vs. 17 µg/l between phlebotomies). The liver function test returned to normal values in 4 out of 5 patients undergoing EA, but none of the phlebotomies. The time required to achieve iron depletion was 3 times shorter in EA group. Conclusions: EA is an effective and safe procedure that achieves iron depletion more quickly than manual phlebotomies. Nevertheless, to determine its cost-effectiveness, economical, prospective, randomized studies are warranted

[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]. / Hiperferritinemia familiar y cataratas congénitas asociadas a mutación del gen HFE. Dos nuevas familias españolas y una nueva mutación (A37T: "Zaragoza").

BACKGROUND AND OBJECTIVE: Nuclear congenital cataracts associated with hyperferritinemia--hereditary hyperferritinemia cataract syndrome (HHCS)--without clinical or biochemical signs of iron overload have been recently described in several Spanish families. This HHCS is associated with mutations in the gene of ferritin subunit L, located in chromosome 19. We describe 2 new families with HHCS, one of them presenting a new L-ferritin mutation (A37T: -Zaragoza-). PATIENTS AND METHOD: Patients and probands were studied according to the Anemia Unit protocol: complete blood count, biochemical profile (diabetes, hepatic and renal), hepatic serologies, iron metabolism (iron, transferrin, ferritin, transferrin saturation, reactive C protein) and mutation HFE gene studies (C282Y, H63D). All of them were sent to the Ophthalmology Service for cataract study. L-ferritin mutational scanning was performed by denaturing high performance liquid chromatography (DHPLC). Samples displaying an altered elution profile, as compared to a wild type control, were directly sequenced for the precise characterization of the L-ferritin mutation. RESULTS: Family A proband was a 54 year-old-female, with cataracts, ferritin level: 942 pg/I, transferrin saturation: 14%, HFE gen study: H63D/H63D; L-ferritin gene study: C33T mutation/-. Her two sons had cataracts, hyperferritinemia (1607, and 1188 pg/I, respectively), normal transferrin saturation (40% and 9%), HFE gene study: H63D/N; and L-ferritin gen study: C33T/-. Family B proband was a 39 year-old-female, with cataract, ferritin level: 636 pg/I, transferrin saturation: 25%, HFE gene study: H63D/N; and L-ferritin gene study: A37T/-. Her two sons, sister, brother and nephew, who were affected with A37T mutation, showed hyperferritinemia (883, 747, 835, 613 and 1396 pg/I) with normal transferrin saturation levels (17%, 34%, 25%, 18% and 24%); but the ferritin levels of those non-affected were normal (35 and 50 pg/I). CONCLUSIONS: HHCS is a dominant autosomic condition, with a possible world-wide distribution,which should be included in the differential diagnosis of hyperferritinemia studies. It is important to suspect it in order to avoid wrong treatment.

Hiperferritinemia familiar y cataratas congénitas asociadas a mutación del gen HFE. Dos nuevas familias españolas y una nueva mutación (A37T: «Zaragoza») / Hyperferritinemia-cataract syndrome associated to HFE gen mutation. Two new Spanish families and a new mutation (A37T: «Zaragoza»)

Fundamento y objetivo: La presencia de cataratas nucleares congénitas asociadas con hiperferritinemia sin signos clínicos ni bioquímicos de sobrecarga férrica, lo que se conoce como síndrome de cataratas e hiperferritinemia congénitas (SCHC) se ha descrito en varias familias españolas. Este SCHC se asocia a mutaciones del gen de la subunidad L de la ferritina. Describimos 2 nuevas familias españolas afectadas de SCHC; una de ellas presenta una nueva mutación (A37T: «Zaragoza»), pero ambas son portadoras de la mutación H63D del gen HFE (uno de ellos homocigoto). Pacientes y método: Se estudió a los probandos y pacientes de acuerdo con el protocolo de la Unidad de Eritropatología. Se realizó un hemograma completo, bioquímica (glucosa, perfil renal y perfil hepático), serologías hepáticas, metabolismo férrico (sideremia, transferrinemia, ferritinemia, saturación de la transferrina, proteína C reactiva) y estudio de las mutaciones del gen HFE (C282Y, H63D). Se remitió a los pacientes al Servicio de Oftalmología. El escaneo mutacional de las cadenas L de ferritina se realizó por medio de cromatografía líquida (DHPLC). Las muestras analizadas que mostraban un perfil alterado se secuenciaron directamente para la caracterización precisa de la mutación de las cadenas L de ferritina. Resultados: El probando de la familia A era una mujer de 54 años de edad, con cataratas, ferritinemia de 942 µg/l y saturación de la transferrina del 14%. En el estudio del gen HFE se encontraron las mutaciones H63D/H63D, y en el del gen L-ferritina la mutación C33T. Sus 2 hijos presentaban cataratas, hiperferritinemia (1.607 mg/l y 1.188 mg/l, respectivamente) y saturación de la transferrina normal (el 40 y el 9%, respectivamente); en el estudio del gen HFE se detectó la mutación H63D/­ y en el del gen L-ferritina la mutación C33T/­. El probando de la familia B era una mujer 39 años, con cataratas, ferritinemia de 636 µg/l y saturación de la transferrina del 25%. En el estudio del gen HFE se detectó la mutación H63D/­, y en el del gen L-ferritina, la A37T/­. Los hermanos, hijos y sobrinos con la mutación A37T presentaban hiperferritinemia (883, 747, 835, 613 y 1.396 µg/l), con valores normales de transferrina (del 17, el 34, el 25, el 18 y el 24%), frente a los valores normales de ferritinemia de los no portadores (35 y 50 µg/l). Conclusiones: El SCHC es una entidad con una posible distribución mundial que debe incluirse dentro de los diagnósticos diferenciales en los estudios de hiperferritinemia. Es importante su amplia difusión para evitar un tratamiento inadecuado

Background and objective: Nuclear congenital cataracts associated with hyperferritinemia ­hereditary hyperferritinemia cataract syndrome (HHCS)­ without clinical or biochemical signs of iron overload have been recently described in several Spanish families. This HHCS is associated with mutations in the gene of ferritin subunit L, located in chromosome 19. We describe 2 new families with HHCS, one of them presenting a new L-ferritin mutation (A37T: «Zaragoza»). Patients and method: Patients and probands were studied according to the Anemia Unit protocol: complete blood count, biochemical profile (diabetes, hepatic and renal), hepatic serologies, iron metabolism (iron, transferrin, ferritin, transferrin saturation, reactive C protein) and mutation HFE gene studies (C282Y, H63D). All of them were sent to the Ophthalmology Service for cataract study. L-ferritin mutational scanning was performed by denaturing high performance liquid chromatography (DHPLC). Samples displaying an altered elution profile, as compared to a wild type control, were directly sequenced for the precise characterization of the L-ferritin mutation. Results: Family A proband was a 54 year-old-female, with cataracts, ferritin level: 942 µg/l, transferrin saturation: 14%, HFE gen study: H63D/H63D; L-ferritin gene study: C33T mutation/­. Her both sons had cataracts, hyperferritinemia (1607, and 1188 µg/l, respectively), normal transferrin saturation (40% and 9%), HFE gene study: H63D/N; and L-ferritin gen study: C33T/­. Family B proband was a 39 year-old-female, with cataract, ferritin level: 636 µg/l, transferrin saturation: 25%, HFE gene study: H63D/N; and L-ferritin gene study: A37T/­. Her both sons, sister, brother and nephew, who were affected with A37T mutation, showed hyperferritinemia (883, 747, 835, 613 and 1396 µg/l) with normal transferrin saturation levels (17%, 34%, 25%, 18% and 24%); but the ferritin levels of those non-affected were normal (35 and 50 µg/l). Conclusions: HHCS is a dominant autosomic condition, with a possible world-wide distribution, which should be included in the differential diagnosis of hyperferritinemia studies. It is important to suspect it in order to avoid wrong treatment