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

ASJC Scopus subject areas

  • Hematology

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