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Congenital Hypoplastic Anemia


Presentation

  • This study indicates that Th activation may be a red cell developmental marker present in congenital hypoplastic anemias and also expressed on newborn red cells.[ncbi.nlm.nih.gov]
  • Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood.[ncbi.nlm.nih.gov]
  • A 19-year-old boy with congenital hypoplastic anemia (CHA) treated with long-term steroid therapy, presented with septic shock caused by Streptococcus pneumoniae.[ncbi.nlm.nih.gov]
  • Six congenital hypoplastic anemia (CHA) patients from five families who have been followed from 2 months to 28 years are presented.[ncbi.nlm.nih.gov]
  • Some abnormal properties (namely, MCV and hemoglobi n F concentration) of CHA erythrocytes, present during remission but accentuated during relapse, seemed to vary with changes in serum erythropoietin.[ncbi.nlm.nih.gov]
Pallor
  • The typical patient presents in infancy (median 1 month of age) with pallor. In as many as 30% of the patients there is an inconsistent pattern of congenital anomalies of the heart, integument, musculoskeletal system, and kidneys.[ncbi.nlm.nih.gov]
  • Chapter 442 Congenital Hypoplastic Anemia (Diamond-Blackfan Anemia) Congenital hypoplastic anemia (Diamond-Blackfan anemia, DBA) is a rare condition that usually becomes symptomatic in early infancy, often presenting with pallor in the neonatal period[clinicalgate.com]
  • Although pallor of the skin is a sign of anemia, it is not the most reliable sign; many other factors can affect complexion and skin color.[medical-dictionary.thefreedictionary.com]
  • All had severe pallor at presentation, with mild hepato-megaly and just palpable spleen in one child. Thumb anomaly was present in one of them.[indianpediatrics.net]
  • There is usually a waxy pallor, and hemorrhages occur in the mucous membranes, skin, and other organs.[britannica.com]

Workup

  • See Workup for more detail. Management Severe or very severe aplastic anemia is a hematologic emergency, and care should be instituted promptly. Clinicians must stress the need for patient compliance with therapy.[emedicine.medscape.com]
Thrombocytosis
  • The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia.[journals.lww.com]
Howell-Jolly Bodies
  • Peripheral blood smears revealed Howell-Jolly bodies and postmortem examination revealed the absence of the spleen, splenic vein and splenic artery.[ncbi.nlm.nih.gov]
Hyperviscosity
  • […] and the approach to anemia -- Anemia of prematurity and indications for erythropoietin therapy -- Hypoplastic anemia -- Hemolytic disease of the fetus and newborn -- Neonatal hemolysis -- Neonatal screening for hemoglobinopathies -- Polycythemia and hyperviscosity[books.google.com]
Streptococcus Pneumoniae
  • A 19-year-old boy with congenital hypoplastic anemia (CHA) treated with long-term steroid therapy, presented with septic shock caused by Streptococcus pneumoniae.[ncbi.nlm.nih.gov]
  • Specific risks include osteomyelitis, meningitis, pneumonia, and sepsis from agents such as Streptococcus pneumoniae , Mycoplasma , and Chlamydia .[medical-dictionary.thefreedictionary.com]

Treatment

  • Serial bone marrow aspirates, obtained after institution of treatment with a corticosteroid, revealed an initial increase in labeled lymphocytes, a concomitant decrease in their number, and the subsequent appearance of erythroid elements.[ncbi.nlm.nih.gov]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • In this paper we will show the results of such treatment, the conclusions we draw concerning the presence or failure of[jamanetwork.com]
  • Treatment Treatment of anemia must be specific for the cause. The prognosis for recovery from anemia is excellent if the underlying cause is treatable.[medical-dictionary.thefreedictionary.com]
  • Update on Basic Research and Clinical Applications. 3rd International Workshop on Treatment of Anemia with Recombinant Human Erythropoietin, Telfs-Buchen, June 1990. Contrib Nephrol.[karger.com]

Prognosis

  • Early differentiation of TEC and CHA appears feasible, allowing prompt provision of a favorable prognosis and the avoidance of unnecessary corticosteroid therapy in TEC.[ncbi.nlm.nih.gov]
  • […] of this disorder depends upon the severity of the syndrome Please find comprehensive information on Aase Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis,[dovemed.com]
  • For those responding to steroid therapy the prognosis is good.[medical-dictionary.thefreedictionary.com]
  • […] association with certain viral infections (hepatitis - A, B, C; EBV, HIV, parvovirus), drugs (chloramphenicol) and toxins (benzene) Possible association with paroxysmal nocturnal hemoglobinuria May have clonal anomalies (e.g. trisomy 8) Treatment and prognosis[pathologyoutlines.com]
  • Prognosis Aplastic anaemia has a varied clinical course; some patients have mild symptoms that necessitate little or no therapy, whereas others present with life-threatening pancytopenia representing a medical emergency [ 7 ].[patient.info]

Etiology

  • A progressive anemia of unknown etiology encountered in the first year of life, characterized by deficiency of red cell precursors in an otherwise normally cellular bone marrow ; it is unresponsive to hematinics and often requires multiple blood transfusions[ndif.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology IDA is caused by inadequate iron intake, malabsorption of iron, blood loss, pregnancy and lactation, intravascular hemolysis, or a combination of these factors.[medical-dictionary.thefreedictionary.com]
  • […] million; if strictly defined, probably 2 cases/million Either constitutional / congenital or acquired (substantially more common) Most patients are adults or elderly in acquired cases; the congenital ones generally manifest during childhood Multifactorial etiology[pathologyoutlines.com]
  • Bone marrow failure (BMF) syndromes entail a broad group of diseases of varying etiologies, in which hematopoeisis is abnormal or completely arrested in one or more cell lines.[aetna.com]

Epidemiology

  • Content ranges from the basic, to the translational, and from the epidemiology of acquired aplastic anemia and telomere biology, to the management, treatment, and supportive care of pediatric, adult, and geriatric patients.[elsevier.com]
  • Epidemiology [ 1, 2 ] The incidence is 2-3 per million per year in Europe, but higher in East Asia. There is a biphasic distribution, with peaks at 10-25 years and over 60 years.[patient.info]
  • The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond Blackfan anemia. J Pediatr Hematol Oncol 2001; 23: 377-382. 4. Dianzani I, Garelli E, Ramenghi U. Diamond-Blackfan Anemia: an overview.[indianpediatrics.net]
  • Calado, and Phillip Scheinberg, Blood Journal, October, 2006  www.hematologica.org - Epidemiology of acquired aplastic anemia, Neal S.Young & DavidW.[slideshare.net]
  • Epidemiology United States statistics No accurate prospective data are available regarding the incidence of aplastic anemia in the United States.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Although its congenital nature is firmly established, the pathophysiology is still unknown, and it is likely that there are multiple biochemical or cellular defects producing the same clinical syndrome.[ncbi.nlm.nih.gov]
  • GhaiTextbook of Paediatrics, page 312, 313  www.bloodjournal.org - Current concepts in pathophysiology & treatment of aplastic anemia, Neal S.Young, RodrigoT.[slideshare.net]
  • Renal Disease hypoplastic bone marrow Multiple factors interacting with each other Decreased EPO production Presence of erythropoiesis inhibitors Decreased red cell survival Blood loss Iron deficiency Folate deficiency are the pathophysiology of anemia[quizlet.com]
  • […] million Either constitutional / congenital or acquired (substantially more common) Most patients are adults or elderly in acquired cases; the congenital ones generally manifest during childhood Multifactorial etiology with numerous possible overlapping pathophysiologic[pathologyoutlines.com]
  • The pathophysiology is believed to be idiopathic [ 2 ] or immune-mediated phenomenon with active destruction of haematopoietic stem cells [ 3 ].[virologyj.biomedcentral.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • Measures to prevent infection are explained, and the importance of adequate rest is emphasized.[medical-dictionary.thefreedictionary.com]
  • If platelet count is low (less than 20,000/mm3), preventing hemorrhages is vital and includes such measures as avoiding IM injections, using an electric razor and a soft toothbrush, and using humidifying oxygen to prevent drying of the mucous membranes[innvista.com]

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