Celina Benavente

THE FIRST CASE OF Hb E-SASKATOON ASSOCIATED WITH Hb LEPORE-BALTIMORE FOUND IN SPAIN

Hb E-Saskatoon [β22(B4)Glu→Lys] does not cause any clinical symptoms in the heterozygous state. The homozygous state shows moderate phenotype expression. It has also been detected in association with β-thalassemia. We present the first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore. This unusual combination of mutations does not aggravate the clinical picture, as only microcytosis and hypochromia have been observed. Hb E-Saskatoon can only be correctly characterized by ion exchange high performance liquid chromatography (HPLC) or by DNA sequencing.

Hemoglobina Stanleyville II [ α78(EF7)Asn → Lys]. Primer caso descrito en España

Resumen Fundamento y objetivo Las hemoglobinopatias estructurales son el resultado de mutaciones en los genes de globina que determinan una alteracion cualitativa en la expresion de dichos genes. En la mayoria de ellas la alteracion estructural no condiciona ningun cambio significativo, por lo que cursan de forma silente o asintomatica. En este trabajo presentamos un nuevo caso de hemoglobina (Hb) Stanleyville II. Pacientes y metodo El probando es una mujer de 72 anos, raza blanca y origen canario. En la analitica presentaba Hb de 14,3 g/dl, hematocrito del 44,4%, volumen corpuscular medio de 85,8 fl, Hb corpuscular media de 27,7 pg y concentracion de Hb corpuscular media de 32,2 g/l; el indice de anisocitosis era del 15,1%, reticulocitos del 1,2%, HbA2 del 3,1% y HbF del 1,6%. En la electroforesis en acetato de celulosa a pH alcalino y en el isoelectroenfoque se separo una Hb anormal a la altura de la HbS. En agar citrato a pH acido la Hb anormal no se separaba de la HbA. Por cromatografia liquida de alta resolucion de fase reversa se eluyo una cadena anormal mas precoz que la normal. Resultados En el analisis molecular, que se completo con la secuenciacion de los productos de amplificacion por reaccion en cadena de la polimerasa de los genes α 1 y α 2 , se demostro la mutacion AAC → AAA en el codon 78 del segundo exon del gen 2 en estado heterocigoto, que determina un cambio de asparagina por lisina. Conclusiones La sustitucion de un aminoacido con carga neutra, como la asparagina, por otro con carga muy positiva, como la lisina, en el segmento EF, que corresponde a la superficie externa de la estructura terciaria de la cadena de globina, determina un cambio neto en la carga de la cadena. Esto permite su facil diferenciacion por metodos electroforeticos y cromatograficos. Sin embargo, como la localizacion no es fundamental para la estabilidad, solubilidad y afinidad por el oxigeno del tetramero, cursa de forma silente o asintomatica. La Hb Stanleyville II se habia descrito hasta ahora en familias de raza negra del Congo, Uganda, Zaire, EE.UU., Alsacia y Brasil. Este caso representa el primero descrito en Espana.

A Novel Mutation of the α2-Globin causing α+-Thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2)

We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional α-thalassemia (thal) mutation localized on the α2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG→CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional α-thal, was named Hb Plasencia [α125(H8)Leu→Arg (α2)] after the place of residence of the affected family.

Hb AGENOGI [β90(F6)Glu→Lys] IN AN ARGENTINEAN GIRL

Departamento Bioquı́mica Clı́nica, Area Hematologı́a, Facultad de Ciencias Bioquı́micas y Farmacéuticas, Universidad Nacional de Rosario, Suipacha 531, 2000 Rosario, Argentina Facultad de Bioquı́mica y Ciencias Biológicas, Prácticas Finales, Hospital José Marı́a Cullen, 3000 Santa Fe, Argentina Servicio de Hematologı́a y Hemoterapia, Hospital Universitario San Carlos, Universidad Complutense, 28040 Madrid, España

Diagnostic screening of paroxysmal nocturnal hemoglobinuria: Prospective multicentric evaluation of the current medical indications.

Although consensus guidelines have been proposed in 2010 for the diagnostic screening of paroxysmal nocturnal hemoglobinuria (PNH) by flow cytometry (FCM), so far no study has investigated the efficiency of such medical indications in multicentric vs. reference laboratory settings.

Correction to: A phase I–II study of plerixafor in combination with fludarabine, idarubicin, cytarabine, and G-CSF (PLERIFLAG regimen) for the treatment of patients with the first early-relapsed or refractory acute myeloid leukemia

The name of Pau Montesinos was inadvertently presented as Pau Montesinos Fernández in the original article.The original version of this article was revised: The name of Pau Montesinos was inadvertently presented as Pau Montesinos Fernández.

Multicenter comparison of CD34+ myeloid cell count by flow cytometry in low-risk myelodysplastic syndrome. Is it feasible?

Accuracy of bone marrow (BM) blast count in low‐risk myelodysplastic syndromes (MDS) still remains a challenge though it is essential for prognosis. We investigated whether the enumeration of CD34+ myeloid cells by flow cytometry immunophenotyping (FCI) could be used as a consistent parameter for clinical MDS studies.