Literature DB >> 3653362

Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family.

G D van Waveren Hogervorst1, H P van Roermund, P J Snijders.   

Abstract

Size distribution curves of red blood cells were used to detect the presence of microcytes in peripheral blood of members of a Dutch family with hereditary sideroblastic anaemia. 22 of 49 members of this family have a bimodal erythrocyte volume distribution curve and a dimorphic blood picture. The pattern of inheritance of this morphological abnormality is clearly autosomal. It is suggested that the study of red blood cell size distribution curves may add valuable information on the pattern of inheritance in other families with hereditary sideroblastic anaemia.

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Year:  1987        PMID: 3653362     DOI: 10.1111/j.1600-0609.1987.tb01436.x

Source DB:  PubMed          Journal:  Eur J Haematol        ISSN: 0902-4441            Impact factor:   2.997


  7 in total

1.  A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice.

Authors:  M D Fleming; D R Campagna; J N Haslett; C C Trenor; N C Andrews
Journal:  Genes Dev       Date:  2001-03-15       Impact factor: 11.361

2.  Congenital sideroblastic anaemia in two girls.

Authors:  G Dolan; M M Reid
Journal:  J Clin Pathol       Date:  1991-06       Impact factor: 3.411

3.  Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Authors:  Klaus Schmitz-Abe; Szymon J Ciesielski; Paul J Schmidt; Dean R Campagna; Fedik Rahimov; Brenda A Schilke; Marloes Cuijpers; Klaus Rieneck; Birgitte Lausen; Michael L Linenberger; Anoop K Sendamarai; Chaoshe Guo; Inga Hofmann; Peter E Newburger; Dana Matthews; Akiko Shimamura; Pieter J L M Snijders; Meghan C Towne; Charlotte M Niemeyer; Henry G Watson; Morten H Dziegiel; Matthew M Heeney; Alison May; Sylvia S Bottomley; Dorine W Swinkels; Kyriacos Markianos; Elizabeth A Craig; Mark D Fleming
Journal:  Blood       Date:  2015-10-21       Impact factor: 22.113

4.  Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.

Authors:  J S Noble; G R Taylor; M S Losowsky; R Hall; G Turner; R F Mueller; A D Stewart
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 5.  Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

Authors:  P E Jardine; P D Cotter; S A Johnson; E J Fitzsimons; L Tyfield; P W Lunt; D F Bishop
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

6.  Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Authors:  P D Cotter; A May; E J Fitzsimons; T Houston; B E Woodcock; A I al-Sabah; L Wong; D F Bishop
Journal:  J Clin Invest       Date:  1995-10       Impact factor: 14.808

Review 7.  Down the Iron Path: Mitochondrial Iron Homeostasis and Beyond.

Authors:  Jonathan V Dietz; Jennifer L Fox; Oleh Khalimonchuk
Journal:  Cells       Date:  2021-08-25       Impact factor: 6.600

  7 in total

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