Christmas disease: Definition from Answers.com

Haemophilia B
Classification and external resources
ICD-10	D 67.
ICD-9	286.1
OMIM	306900
DiseasesDB	5561
MedlinePlus	000539
eMedicine	emerg/240
MeSH	D002836

Haemophilia B (also spelled Hemophilia B or Hæmophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene, leading to a deficiency of Factor IX. It is the least common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease after Stephen Christmas, the first patient described with this disease.^[1] In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.^[2]

1 Treatment
2 Genetics
3 Pathophysiology
4 British and Russian Royal Families
5 References
6 See also
7 External links

Treatment

Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. Factor IX has a longer half life than factor VIII (Deficient in Haemophilia A) and as such factor IX can be transfused less frequently.

Genetics

The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why, as in haemophilia A, only males are usually affected. 1 in 50,000 males are affected.

Pathophysiology

Factor IX deficiency leads to an increased propensity for haemorrhage. This is in response to mild trauma or even spontaneously, such as in joints (haemarthrosis) or muscles.

British and Russian Royal Families

A study published in 2009 identified the blood disease affecting both the Russian (Romanov) and British Royal Families as haemophilia B on the basis of genetic markers.^[3]^[4]

References

^ Christmas' disease at Who Named It?
^ Biggs R, Douglas AS, MacFarlane RG, Dacie JV, Pitney WR, Merskey C, O'Brien JR (1952). "Christmas disease: a condition previously mistaken for haemophilia". Br Med J 2 (4799): 1378–82. PMID 12997790.
^ Michael Price (8 October 2009). "Case Closed: Famous Royals Suffered From Hemophilia". ScienceNOW Daily News. AAAS. http://sciencenow.sciencemag.org/cgi/content/full/2009/1008/2. Retrieved 9 October 2009.
^ Evgeny I. Rogaev et al. (8 October 2009). "Genotype Analysis Identifies the Cause of the "Royal Disease"". Science. http://www.sciencemag.org/cgi/content/abstract/1180660. Retrieved 9 October 2009.

External links

GeneReview/NIH/UW entry on Hemophilia B
Hemophilia: What is it? at CSHL Your Genes, Your Health
hemophilia B at GPnotebook

Pathology: hematology · hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)

↑

↓

Micro-: Iron deficiency anemia (Plummer-Vinson syndrome)

Macro-: Megaloblastic anemia (Pernicious anemia)

Hemolytic
(mostly Normo-)

Hereditary	enzymopathy: G6PD · glycolysis (PK, TI, HK) hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis (Minkowski-Chauffard syndrome) · Hereditary elliptocytosis (Ovalocytosis) · Hereditary stomatocytosis

Acquired	Autoimmune (WAHA, CAD, PCH) membrane (PNH) MAHA · TM (HUS) Drug-induced autoimmune · Drug-induced nonautoimmune Hemolytic disease of the newborn

Aplastic
(mostly Normo-)

Hereditary: Fanconi anemia · Diamond-Blackfan anemia
Acquired: PRCA · Sideroblastic anemia · Myelophthisic

Blood tests

MCV (Normocytic, Microcytic, Macrocytic) · MCHC (Normochromic, Hypochromic)

Other

Methemoglobinemia · Sulfhemoglobinemia · Reticulocytopenia

Coagulation/
coagulopathy/
bleeding
diathesis

↑

Thrombocytosis	Essential thrombocytosis

Hypercoagulability	primary: Antithrombin III deficiency · Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden · Hyperprothrombinemia acquired: DIC (Congenital afibrinogenemia, Purpura fulminans) · autoimmune (Antiphospholipid)

↓

Thrombocytopenia and purpura	Nonthrombocytopenic purpura: Henoch-Schönlein purpura Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP) Heparin-induced thrombocytopenia · May-Hegglin anomaly

Platelet function	adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) · platelet storage pool deficiency (Hermansky-Pudlak syndrome, Gray platelet syndrome)

Clotting factor	Hemophilia (A/VIII, B/IX, C/XI) • Von Willebrand disease • Hypoprothrombinemia/II · XIII

myeloid navs: cells/physio, disease of RBCs+megakaryocytes/monocytes+granulocytes/neoplasia, symptoms+signs/eponymous
↑ means increased, ↓ means decreased

Sex linkage: X-linked disorders

X-linked recessive

Immune	Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease

Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine	Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic	amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome dyslipidemia: Adrenoleukodystrophy carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb lipid storage disorder: Fabry's disease mucopolysaccharidosis: Hunter syndrome purine-pyrimidine metabolism: Lesch-Nyhan syndrome mineral: Menkes disease

Nervous system	X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease · SMAX2

Skin and related tissue	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi-Hünermann syndrome

Urologic	Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

No primary system	Barth syndrome · McLeod syndrome · Simpson-Golabi-Behmel syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan-Fryns syndrome

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	Christmas factor
	hemophilioid disease
	factor IX (protein substance in blood plasma)

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Christmas disease

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