nach oben

Erschienen in:

01.01.2004 | Original Article

Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland

verfasst von: D. M. Bogusławska, E. Heger, A. Chorzalska, M. Nierzwicka, J. Hołojda, A. Świderska, A. Straburzyńska, G. Paździor, M. Langner, A. F. Sikorski

Erschienen in: Annals of Hematology | Ausgabe 1/2004

Einloggen, um Zugang zu erhalten

Abstract

Red blood cells of 17 patients out of seven families diagnosed with HS from the southwest of Poland were studied. In six families a deficiency of ankyrin was detected, and in one family a band 3 (anion-exchanger protein) deficiency was detected. Patients from six families with the ankyrin deficiency had a 19–51% decrease in ankyrin 2.1, while the family with the band 3 deficiency showed a 33% decrease in this protein content. All changes were statistically significant, as analysed by the Student t test (P<0.05). Analysis of haemolysis kinetics gives a reliable indication of altered osmotic properties of the spherocytic cells.

Bogusławska DM, Heger E, Chorzalska A, Nierzwicka M, Hołojda J, Świderska A, Straburzyńska A, Chmura A, Langner M, Sikorski AF (2002) Identification of several families with hereditary spherocytosis in a population from South-West Poland. Cell Mol Biol Lett 7[Suppl]: 174

Delaunay J, Alloisio N, Morle L (1996) Molecular genetics of hereditary spherocytosis. Cell Mol Biol Lett 1:49–65

Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M (1997) Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. Br J Haematol 98:32–40

Dodge JT, Mitchell C, Hanahan DJ (1963) The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocyte membrane. Arch Biochem 100:119–130

Eber SW, Armbrust R, Schroter W (1990) Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr 117:409–416

Eber SW, Gonzales JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE (1996) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genet 13:214–218

Gallagher PG, Sabatino DE, Basseres DS, Nilson DM, Wong C, Cline AP, Garrett LJ, Bodine DM (2001) Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. J Biol Chem 276:41683–41689CrossRef

Inoue T, Kanzaki A, Yawata A, Wada H, Okamoto N, Takahashi M, Sugihara T, Yamada O, Yawata Y (1994) Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population. Int J Hematol 60:227–238

Jarolim P, Rubin HL, Brabec V, Palek J (1995) A nonsense mutation 1669Glu->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. J Clin Invest 95:941–947

10.

Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK, Snyder LM, Chrobak L, Melrose WD, Brabec V, Palek J (1996) Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 88:4366–4374

11.

Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacterophage T4. Nature 227:680–685PubMed

12.

Lanciotti M, Perutelli P, Valetto A, Di Martino D, Mori PG (1997) Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis. Haematologica 82:460–462

13.

Leite RC, Basseres DS, Ferreira JS, Alberto FL, Costa FF, Saad ST (2000) Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. Hum Mutat 16:529CrossRef

14.

Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S (1994) Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis. Br J Haematol 88:52–55PubMed

15.

Miraglia del Giudice E, Francese M, Nobili B, Morle L, Cutillo S, DElaunay J, Perrotta S (1998) High frequency of de novo mutations in ankyrin gene (ANK1) in children spherocytosis. J Pediatr 132:117–120PubMed

16.

Miraglia del Giudice E, Nobili B, Francese M, D'Urso L, Iolascon A, Eber S, Perrotta S (2001) Clinical and molecular evaluation of non-dominant hereditary spherocytosis. Br J Haematol 112:42–47CrossRef

17.

Paździor G, Langner M., Chmura A, Bogusławska D, Heger E, Chorzalska A, Sikorski AF (2003) Kinetics of haemolysis of spherocytic erythrocytes. Cell Mol Biol Lett 8:639–648

18.

Tse WT, Lux SE (1999) Red blood cell membrane disorders. Brit J Haematol 104:2–13

Titel: Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland
verfasst von: D. M. Bogusławska
E. Heger
A. Chorzalska
M. Nierzwicka
J. Hołojda
A. Świderska
A. Straburzyńska
G. Paździor
M. Langner
A. F. Sikorski
Publikationsdatum: 01.01.2004
Verlag: Springer-Verlag
Erschienen in: Annals of Hematology / Ausgabe 1/2004
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-003-0739-5

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

25.04.2024 | Hypotonie | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland

Abstract

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Update Innere Medizin

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2004

Cryopreservation of mobilized blood stem cells at a higher cell concentration without the use of a programmed freezer

Antierythropoietin antibodies in thalassemia patients

High spontaneous colony growth in chronic myelomonocytic leukemia correlates with increased disease activity and is a novel prognostic factor for predicting short survival

Gamma-irradiation of blood products following autologous stem cell transplantation: surveillance of the policy of 35 centers

Successful treatment with micafungin of invasive pulmonary aspergillosis in acute myeloid leukemia, with renal failure due to amphotericin B therapy

Possible efficacy of lamivudine treatment to prevent hepatitis B virus reactivation due to rituximab therapy in a patient with non-Hodgkin's lymphoma

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Update Innere Medizin