Extramedullary Hematopoiesis in Hereditary Spherocytosis Deficient in Ankyrin: A Case Report

Granjo, Elisa; Bauerle, Roswitha; Sampaio, Rego; Manata, Pedro; Torres, Noémia; Quintanilha, Alexandre

doi:10.1007/bf02982578

Cited by 16 publications

(6 citation statements)

References 21 publications

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“…Circulating HSCs home to and seed embryonic sites of hematopoiesis, and erythropoietin and other chemical mediators stimulate proliferation of preexisting extramedullary HPCs in these organs. 31,91 Hemolytic anemia caused by pyruvate kinase deficiency, babesiosis, immune-mediated hemolytic anemia, zinc toxicosis, and other disorders that shorten erythrocyte lifespan are reported causes of myelostimulatory EMH in animals, especially dogs. 123 Splenic erythropoiesis secondary to hypoxia has been studied extensively in mice and is often referred to as ''stress EMH.''…”

Section: Myelostimulation (Upregulation Of Medullary Hematopoiesis)mentioning

confidence: 99%

Extramedullary Hematopoiesis: A New Look at the Underlying Stem Cell Niche, Theories of Development, and Occurrence in Animals

2012

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Extramedullary hematopoiesis (EMH) is the formation and development of blood cells outside the medullary spaces of the bone marrow. Although widely considered an epiphenomenon, secondary to underlying primary disease and lacking serious clinical or diagnostic implications, the presence of EMH is far from incidental on a molecular basis; rather, it reflects a well-choreographed suite of changes involving stem cells and their microenvironment (the stem cell niche). The goals of this review are to reconsider the molecular basis of EMH based on current knowledge of stem cell niches and to examine its role in the pathophysiologic mechanisms of EMH in animals. The ability of blood cells to home, proliferate, and mature in extramedullary tissues of adult animals reflects embryonic patterns of hematopoiesis and establishment or reactivation of a stem cell niche. This involves pathophysiologic alterations in hematopoietic stem cells, extracellular matrix, stromal cells, and local and systemic chemokines. Four major theories involving changes in stem cells and/or their microenvironment can explain the development of most occurrences of EMH: (1) severe bone marrow failure; (2) myelostimulation; (3) tissue inflammation, injury, and repair; and (4) abnormal chemokine production. EMH has also been reported within many types of neoplasms. Understanding the concepts and factors involved in stem cell niches enhances our understanding of the occurrence of EMH in animals and its relationship to underlying disease. In turn, a better understanding of the prevalence and distribution of EMH in animals and its molecular basis could further inform our understanding of the hematopoietic stem cell niche.

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Section: Myelostimulation (Upregulation Of Medullary Hematopoiesis)mentioning

confidence: 99%

Extramedullary Hematopoiesis: A New Look at the Underlying Stem Cell Niche, Theories of Development, and Occurrence in Animals

2012

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“…Several unsplenectomized adult patients have been reported with extramedullary haemopoiesis, occasionally as the presenting feature of the disease. (Mulder et al , 1975; Petit & Estany, 1987; Bastion et al , 1990; Pulsoni et al , 1992; Xiros et al , 2001; Granjo et al , 2002; Sutton et al , 2003).…”

Section: Rare Complicationsmentioning

confidence: 99%

Guidelines for the diagnosis and management of hereditary spherocytosis

et al. 2004

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SummaryHereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemolysis. There is usually a family history, and a typical clinical and laboratory picture so that the diagnosis is often easily made without additional laboratory tests. Atypical cases may require measurement of erythrocyte membrane proteins to clarify the nature of the membrane disorder and in the absence of a family history, occasionally molecular genetic analysis will help to determine whether inheritance is recessive or non-dominant. It is particularly important to rule out stomatocytosis where splenectomy is contraindicated because of the thrombotic risk. Mild HS can be managed without folate supplements and does not require splenectomy. Moderately and severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 6 years and with appropriate counselling about the infection risk. In all cases careful dialogue between doctor, patient and the family is essential. Laparoscopic surgery, when performed by experienced surgeons, can result in a shorter hospital stay and less pain.Keywords: spherocytosis, hereditary, splenectomy, child, erythrocyte membrane.Hereditary spherocytosis (HS) was described in 1871 and the first recorded splenectomy was performed soon after. It is the commonest cause of inherited chronic haemolysis in Northern Europe and North America with a quoted incidence of 1 in 5000 births (Morton et al, 1962). However, studies of osmotic fragility in blood donors suggest the existence of extremely mild or subclinical forms (Godal & Heisto, 1981;Eber et al, 1992), raising the prevalence of HS to 1 in 2000 . HS has also been found in other ethnic groups (in Africa, Algeria, Tunisia, Egypt, Japan, North India and Brazil). There are only rare cases reported in the black population. In the last 15 years significant progress has been made in the understanding of the biochemical and molecular genetic basis of HS. The definitions of the types of evidence and the grading recommendations used in this guideline are listed in Appendix. Search strategyIn addition to personal archives and consultation of standard textbooks (together with relevant cited references therein), the writing group searched Medline and Embase to identify relevant literature including meta-analyses (none found), reviews and original papers in any language, using the following key words and combinations of them: hereditary spherocytosis; red cell membrane; spectrin, ankyrin, band 3, spherocytes; haemolysis; folate; folic acid; splenectomy; splenectomy in haematological

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“…, 2004; Salehi, Koski & Ondra, 2004). The development of tumour‐like masses can also involve the intrathoracic and intracranial areas (Granjo et al. , 2002; Bickhardt, Scheithauer & Matthiessen, 2004).…”

Section: Discussionmentioning

confidence: 99%

Effect of hydroxyurea on extramedullary haematopoiesis in thalassaemia intermedia: case reports and literature review

Meo

Cassinerio

Castelli

et al. 2008

Int J Lab Hematology

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Extramedullary haematopoiesis (EH) is the production of blood cell precursors outside the bone marrow that occurs in various disorders, such as thalassaemia, sickle cell anaemia, hereditary spherocytosis, polycythaemia vera, myelofibrosis and other haematological diseases. In chronic anaemia, it is a physiological response to increased erythropoietin. In some other conditions, such as myeloid metaplasia, polycythaemia vera or chronic myeloid leukaemia, EH is due to a clonal disorder of haematopoiesis that enables progenitor cells to escape from the marrow and lodge in other organs. EH usually involves the liver, spleen and lymph nodes or it can be paravertebral, intrathoracic, pelvic. It is often asymptomatic but can sometimes lead to symptomatic tumour-like masses. Treatment options are still controversial and limited, including hypertransfusion regimen, surgical treatment, radiotherapy and hydroxyurea (HU). We describe intrathoracic and symptomatic pelvic EH masses in a 48-year-old woman and intrathoracic bilateral masses causing respiratory insufficiency with pleural effusion in a 42-year-old male, both affected by thalassaemia intermedia. Both patients showed a clinical improvement with hydroxyurea therapy and occasional blood transfusions.

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Extramedullary Hematopoiesis in Hereditary Spherocytosis Deficient in Ankyrin: A Case Report

Cited by 16 publications

References 21 publications

Extramedullary Hematopoiesis: A New Look at the Underlying Stem Cell Niche, Theories of Development, and Occurrence in Animals

Extramedullary Hematopoiesis: A New Look at the Underlying Stem Cell Niche, Theories of Development, and Occurrence in Animals

Guidelines for the diagnosis and management of hereditary spherocytosis

Effect of hydroxyurea on extramedullary haematopoiesis in thalassaemia intermedia: case reports and literature review

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