Clinical and hematological features of hereditary spherocytosis as a function of the type of the membrane protein defect

Mariani Mariagabriella, Vercellati Cristina, Manuela Zappa, Paolo Morandi, Caria Boschetti, Alberto Zanella

Research output: Contribution to journalArticle

Abstract

Hereditary Spherocytosis (HS) is a highly heterogeneous hemolytic anemia, caused by a defect of spectrin, ankyrin, band 3 or band 4.2. Information on the clinical expression of various HS types is scanty. SDS-PAGE red cell membrane analysis according to Fairbanks and Laemmli was performed in 131 not splenectomized HS patients. The underlying membrane defect was detected in 93/131. The table shows the clinical and hematological features of 93 HS patients divided according to the type of defect. Numbers represent median values (range in brackets). Type of membrane protein defect Spectrin Ankyrin Band 3 Band 4.2 (n=31) (n=10) (n=39) (n=13) Age at diagnosis (yr) 17 9 15 22 (0.1-60) (2-18) (1-68) (1-56) Patients with severe clinical 11/31 3/10 5/39 2/13 phenotype /total (35%) (30%) (13%) (15%) Hb(g/dL) 12.1 11.6 12.5 12.0 (6.3-16.2) (8.6-15.3) (6.0-16.9) (9.3-15.5) MCHC (g/dL) 35 36 36 35 (30-40) (28-36) (28-40) (26-38) Retics (x109/L) 290 184 212 223 (38-909) (147-354) (72.510) (128-586) Spherocytes(%) 9 2.5 5 4 (0-30) (0-6) (0-45) (2-28) Uncon. Bilirubin (mg/dL) 2.3 0.7 1.4 1.6 (0.4-11.8) (0.7-1.0) (0.5-5.0) (0.8-3.8) Osm. Fragility (AGLT50, sec.) 88 97 68 105 (20-900) (32-900) (32-480) (24-900) Severe clinical phenotype: Hb

Original languageEnglish
JournalBlood
Volume96
Issue number11 PART II
Publication statusPublished - 2000

Fingerprint

Hereditary Spherocytosis
Membrane Proteins
Ankyrins
Spectrin
Defects
Spherocytes
Phenotype
Hemolytic Anemia
Cell membranes
Bilirubin
Polyacrylamide Gel Electrophoresis
Cell Membrane
Membranes

ASJC Scopus subject areas

  • Hematology

Cite this

Clinical and hematological features of hereditary spherocytosis as a function of the type of the membrane protein defect. / Mariagabriella, Mariani; Cristina, Vercellati; Zappa, Manuela; Morandi, Paolo; Boschetti, Caria; Zanella, Alberto.

In: Blood, Vol. 96, No. 11 PART II, 2000.

Research output: Contribution to journalArticle

Mariagabriella, Mariani ; Cristina, Vercellati ; Zappa, Manuela ; Morandi, Paolo ; Boschetti, Caria ; Zanella, Alberto. / Clinical and hematological features of hereditary spherocytosis as a function of the type of the membrane protein defect. In: Blood. 2000 ; Vol. 96, No. 11 PART II.
@article{20052b0906cc4db692aa74b14a66b059,
title = "Clinical and hematological features of hereditary spherocytosis as a function of the type of the membrane protein defect",
abstract = "Hereditary Spherocytosis (HS) is a highly heterogeneous hemolytic anemia, caused by a defect of spectrin, ankyrin, band 3 or band 4.2. Information on the clinical expression of various HS types is scanty. SDS-PAGE red cell membrane analysis according to Fairbanks and Laemmli was performed in 131 not splenectomized HS patients. The underlying membrane defect was detected in 93/131. The table shows the clinical and hematological features of 93 HS patients divided according to the type of defect. Numbers represent median values (range in brackets). Type of membrane protein defect Spectrin Ankyrin Band 3 Band 4.2 (n=31) (n=10) (n=39) (n=13) Age at diagnosis (yr) 17 9 15 22 (0.1-60) (2-18) (1-68) (1-56) Patients with severe clinical 11/31 3/10 5/39 2/13 phenotype /total (35{\%}) (30{\%}) (13{\%}) (15{\%}) Hb(g/dL) 12.1 11.6 12.5 12.0 (6.3-16.2) (8.6-15.3) (6.0-16.9) (9.3-15.5) MCHC (g/dL) 35 36 36 35 (30-40) (28-36) (28-40) (26-38) Retics (x109/L) 290 184 212 223 (38-909) (147-354) (72.510) (128-586) Spherocytes({\%}) 9 2.5 5 4 (0-30) (0-6) (0-45) (2-28) Uncon. Bilirubin (mg/dL) 2.3 0.7 1.4 1.6 (0.4-11.8) (0.7-1.0) (0.5-5.0) (0.8-3.8) Osm. Fragility (AGLT50, sec.) 88 97 68 105 (20-900) (32-900) (32-480) (24-900) Severe clinical phenotype: Hb",
author = "Mariani Mariagabriella and Vercellati Cristina and Manuela Zappa and Paolo Morandi and Caria Boschetti and Alberto Zanella",
year = "2000",
language = "English",
volume = "96",
journal = "Blood",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "11 PART II",

}

TY - JOUR

T1 - Clinical and hematological features of hereditary spherocytosis as a function of the type of the membrane protein defect

AU - Mariagabriella, Mariani

AU - Cristina, Vercellati

AU - Zappa, Manuela

AU - Morandi, Paolo

AU - Boschetti, Caria

AU - Zanella, Alberto

PY - 2000

Y1 - 2000

N2 - Hereditary Spherocytosis (HS) is a highly heterogeneous hemolytic anemia, caused by a defect of spectrin, ankyrin, band 3 or band 4.2. Information on the clinical expression of various HS types is scanty. SDS-PAGE red cell membrane analysis according to Fairbanks and Laemmli was performed in 131 not splenectomized HS patients. The underlying membrane defect was detected in 93/131. The table shows the clinical and hematological features of 93 HS patients divided according to the type of defect. Numbers represent median values (range in brackets). Type of membrane protein defect Spectrin Ankyrin Band 3 Band 4.2 (n=31) (n=10) (n=39) (n=13) Age at diagnosis (yr) 17 9 15 22 (0.1-60) (2-18) (1-68) (1-56) Patients with severe clinical 11/31 3/10 5/39 2/13 phenotype /total (35%) (30%) (13%) (15%) Hb(g/dL) 12.1 11.6 12.5 12.0 (6.3-16.2) (8.6-15.3) (6.0-16.9) (9.3-15.5) MCHC (g/dL) 35 36 36 35 (30-40) (28-36) (28-40) (26-38) Retics (x109/L) 290 184 212 223 (38-909) (147-354) (72.510) (128-586) Spherocytes(%) 9 2.5 5 4 (0-30) (0-6) (0-45) (2-28) Uncon. Bilirubin (mg/dL) 2.3 0.7 1.4 1.6 (0.4-11.8) (0.7-1.0) (0.5-5.0) (0.8-3.8) Osm. Fragility (AGLT50, sec.) 88 97 68 105 (20-900) (32-900) (32-480) (24-900) Severe clinical phenotype: Hb

AB - Hereditary Spherocytosis (HS) is a highly heterogeneous hemolytic anemia, caused by a defect of spectrin, ankyrin, band 3 or band 4.2. Information on the clinical expression of various HS types is scanty. SDS-PAGE red cell membrane analysis according to Fairbanks and Laemmli was performed in 131 not splenectomized HS patients. The underlying membrane defect was detected in 93/131. The table shows the clinical and hematological features of 93 HS patients divided according to the type of defect. Numbers represent median values (range in brackets). Type of membrane protein defect Spectrin Ankyrin Band 3 Band 4.2 (n=31) (n=10) (n=39) (n=13) Age at diagnosis (yr) 17 9 15 22 (0.1-60) (2-18) (1-68) (1-56) Patients with severe clinical 11/31 3/10 5/39 2/13 phenotype /total (35%) (30%) (13%) (15%) Hb(g/dL) 12.1 11.6 12.5 12.0 (6.3-16.2) (8.6-15.3) (6.0-16.9) (9.3-15.5) MCHC (g/dL) 35 36 36 35 (30-40) (28-36) (28-40) (26-38) Retics (x109/L) 290 184 212 223 (38-909) (147-354) (72.510) (128-586) Spherocytes(%) 9 2.5 5 4 (0-30) (0-6) (0-45) (2-28) Uncon. Bilirubin (mg/dL) 2.3 0.7 1.4 1.6 (0.4-11.8) (0.7-1.0) (0.5-5.0) (0.8-3.8) Osm. Fragility (AGLT50, sec.) 88 97 68 105 (20-900) (32-900) (32-480) (24-900) Severe clinical phenotype: Hb

UR - http://www.scopus.com/inward/record.url?scp=33748528682&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748528682&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:33748528682

VL - 96

JO - Blood

JF - Blood

SN - 0006-4971

IS - 11 PART II

ER -