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Results 1 - 10 of 26 for Hb SS disease
  1. Sickle cell disease 
    ... disorder due to hemoglobin S Genetic Testing Registry: Hb SS disease Sickle cell anemia National Organization for Rare Disorders (NORD) ClinicalTrials.gov SICKLE CELL DISEASE PubMed Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. ...
    https://medlineplus.gov/genetics/condition/sickle-cell-disease - Genetics
  2. Omenn syndrome 
    ... Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international ...
    https://medlineplus.gov/genetics/condition/omenn-syndrome - Genetics
  3. ABCA1 gene 
    ... Epub 2003 Jan 9. Citation on PubMed Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denefle P, Assmann G. Tangier disease is caused by mutations in the gene encoding ...
    https://medlineplus.gov/genetics/gene/abca1 - Genetics
  4. Alpha thalassemia 
    ... 2; HBA2 ALPHA-THALASSEMIA PubMed ... available. Citation on PubMed Chui DH. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann ...
    https://medlineplus.gov/genetics/condition/alpha-thalassemia - Genetics
  5. TNFRSF13B gene 
    ... S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, ... disease-causing from risk-increasing TNFRSF13B variants in antibody ...
    https://medlineplus.gov/genetics/gene/tnfrsf13b - Genetics
  6. HBB gene 
    ... is the most common form of sickle cell disease. This form is caused by a particular variant in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S (HbS). In people with this condition, hemoglobin S replaces ...
    https://medlineplus.gov/genetics/gene/hbb - Genetics
  7. HBA2 gene 
    ... skin (jaundice).In Hb Bart syndrome and HbH disease, a shortage of alpha-globin ... carry oxygen to the body's tissues. The substitution of Hb Bart or HbH ...
    https://medlineplus.gov/genetics/gene/hba2 - Genetics
  8. HBA1 gene 
    ... skin (jaundice). In Hb Bart syndrome and HbH disease, a shortage of ... carry oxygen to the body's tissues. The substitution of Hb Bart or HbH ...
    https://medlineplus.gov/genetics/gene/hba1 - Genetics
  9. Gaucher disease 
    ... Cerebroside lipidosis syndrome Gaucher splenomegaly Gaucher syndrome Gaucher's disease Gauchers disease GD Glucocerebrosidase deficiency Glucocerebrosidosis Glucosyl cerebroside ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  10. MT-TL1 gene 
    ... PubMed Sotiriou E, Coku J, Tanji K, Huang HB, Hirano M, DiMauro S. The m.3244G>A mutation in mtDNA is ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
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