The Rh deficiency syndrome arises when all Rh factors are absent or are present in severely reduced amounts. There are two types of genetic defects that can lead to the deficiency; nevertheless, the phenotypic manifestations are the same because both lead to a decrease in the stability of the erythrocyte membrane. Thus, patients with the Rh deficiency syndrome display hemolytic anemia of varying severity.
The Rh antigen system is a complex blood group system comprised of Rh proteins, Rh glycoproteins, and other associated proteins, all of which are components of the erythrocyte membrane. The complexity of these proteins has an important role in maintaining the integrity of the erythrocyte membrane. The RhD protein represents the Rh antigen D, and the RhCE protein is responsible for the C, c, E, and e antigenicity. Both proteins are encoded on chromosome 1 and have very similar amino acid sequences and structures, but are antigenically distinct . The RhAG (Rh-associated glycoprotein) has limited (about 40%) similarity to the Rh proteins and is encoded on chromosome 6. The RhD and RhCE proteins form tetrameric complexes with RhAG; the complexes are thought to interact with accessory proteins, such as light-weight (LW) glycoprotein, integrin-associated protein (CD47), glycophorin B, and others . Among these proteins the Rh antigen D is the most immunogenic: therefore, the presence or absence of the Rh D antigen - the Rh positive or negative status - is routinely determined in blood donors or recipients and pregnant women. Nevertheless, for various reasons, Rh immunization may still occur in pregnancy in mothers who lack the D antigen. The reaction may cause hemolytic disease of the newborn .
The Rh deficiency syndrome is defined by the absence of all Rh proteins (Rhnull), or by a very substantial reduction in their amounts (Rhmod). Other proteins that are absent or considerably reduced in this condition are RhAG and many of the accessory proteins (for example glycophorin B, LW and Fy5 glycoproteins, U and Duclos antigens) . The Rh deficiency syndrome is either caused by a regulatory element that is located outside the Rh locus (regulatory type deficiency), or by the presence of silent Rh genes at the Rh locus (referred to as amorph type). The genetic defects, which may be due to various mutations or deletions or the combination of both,  are recessive in both cases. The symptoms of the disease, i.e. signs of chronic hemolytic anemia, are also the same and are associated with the anomalies in the erythrocyte cell’s membrane structure . The condition is very rare: 1 in about six million is affected .
Patients with the Rh deficiency syndrome show signs of compensated hemolytic anemia, the severity of which is variable, with deformities in cell shape , i.e. stomatocytosis and spherocytosis. The osmotic fragility of erythrocytes is increased, and their lifespan is decreased. Cation transport and Na+/K+ adenosine triphosphatase activity are increased , leading to dehydration of the cell . Another sign of disruption of membrane structure is an abnormal phospholipid distribution . Patients may present with reticulocytosis .
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(yellow) R17 ICD-10-CM Diagnosis Code R17 Unspecified jaundice 2016 2017 2018 2019 Billable/Specific Code Type 1 Excludes neonatal jaundice ( P55, P57 - P59 ) newborn P59.9 ICD-10-CM Diagnosis Code P59.9 Neonatal jaundice, unspecified 2016 2017 2018 [icd10data.com]
Neonatal jaundice due to G6PD deficiency differs from the classic Rhesus (Rh)-related jaundice in its time of onset (peak incidence between day 2 and 3) and severity of jaundice, which outweighs the severity of anemia. [cancertherapyadvisor.com]
This is the test that is done on the newborn's blood sample, usually in the setting of a newborn with jaundice. [med.stanford.edu]
Neonatal Jaundice and Disorders of Bilirubin Metabolism. In: Nathan and Oski’s Hematology of Infancy and Childhood, 7th ed. [rarediseases.org]
CHD)先天性心疾患 congenital hiatus hernia先天性食道裂孔ヘルニア congenital hypoparathyroidism先天性副甲状腺機能低下症 congenital hypothyroidism先天性甲状腺機能低下症 congenital malformation先天奇形 congenital myopathy先天性ミオパチ（シ）－ congenital omphalocele先天性臍帯ヘルニア constipation便秘[症] constitutional jaundice [tokyo-med.ac.jp]
Allergic or hypersensitivity reactions may occur with Rhophylac; early signs of hypersensitivity include generalized urticaria, chest tightness, wheezing, hypotension, and anaphylaxis. Rhophylac is derived from human plasma. [rhophylac.com]
Untreated B 12 deficiency causes balance problems, paresthesias, weakness, dizziness, postural hypotension, and visual disturbances. [pharmacytimes.com]
Patients with the Rh deficiency syndrome may be identified through routine testing, or because of signs of anemia. Family history may reveal consanguineous parentage .
Hematologic tests will show signs of mild hemolytic anemia, with somewhat low total hemoglobin, hematocrit, and mean corpuscular hemoglobin values . The reticulocyte count may be higher than normal  . The peripheral smear shows some cells with abnormal shapes i.e. stomatocytes and spherocytes. The osmotic fragility of red cells is examined by exposing them to various NaCl concentrations and following the degree of hemolysis: patients with the Rh deficiency syndrome have characteristically higher osmotic fragility than healthy individuals  . The serum bilirubin concentration may be slightly increased because of the chronic hemolysis . Monoclonal antibodies can be used to determine individual antigens within the Rh family of proteins and associated proteins. The tests will show that the Rh D, C, c, E, and e antigens, together with those for some other membrane glycoproteins are missing in cases with the Rh deficiency syndrome .
In patients with the Rhnull syndrome, antibodies to erythrocytes encountered through transfusion or during pregnancy may have specificities to one antigen (for example anti-C), a mixture of antigens, or all Rh antigens. These antibodies can be detected by the indirect antiglobulin test. The anti-total Rh antibody is called anti Rh29  .
[…] the studies into 2 subgroups according to their focus on nonoperative treatments or operative treatments. [journals.lww.com]
In those cases that fail to respond in spite of aggressive systemic treatment, adjunctive intravitreal treatment should also be considered. [pmj.bmj.com]
For more information on fetal and newborn treatment, see Treatment Overview. If you are unsensitized Rh-negative, treatment focuses on preventing Rh sensitization during pregnancy and childbirth. [healthlinkbc.ca]
Minor’s consent for medical treatment related to rape – Family Code 6927: A minor who is 12 years of age or older and who is alleged to have been raped may consent to medical care related to the diagnosis or treatment of the condition and the collection [chhs.ca.gov]
View Rhnull syndrome Symptoms, Diagnosis, Treatments and … Rhnull syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. [nittru.com]
What should you tell the patient and the family about prognosis? G6PD deficiency is rarely a life-threatening illness and does not result in decreased survival. [cancertherapyadvisor.com]
Changing pattern of CMV retinitis In the past few years, a dramatic improvement in the prognosis for HIV-infected patients has been achieved with the strategy involving a combination of anti-retroviral drugs to bring about a profound and durable suppression [pmj.bmj.com]
PubMed Central PubMed Google Scholar Hochreutener H, Wüthrich B, Huwyler T, Schopfer K, Seger R, Baerlocher K: Variant of hyper-IgE syndrome: the differentiation from atopic dermatitis is important because of treatment and prognosis. [ojrd.biomedcentral.com]
Etiology-Hereditary Familial Atypical Hemolytic-Uremic Syndrome (aHUS) (see Hemolytic-Uremic Syndrome, [[Hemolytic-Uremic Syndrome]]) xxx Hemoglobinopathies Sickle Cell Disease (see Sickle Cell Disease, [[Sickle Cell Disease]]) Unstable Hemoglobins RBC [mdnxs.com]
A second hospitalization, beginning in June 1982, was complicated by Salmonella sepsis, perianal herpes simplex virus infection, encephalitis of unknown etiology, and disseminated cytomegalovirus infection. He died in August 1982. [cdc.gov]
Over the years, an intensive investigative effort has ensued in an attempt to find the etiology of IgG and IgG subclass deficiencies. However, these studies are controversial because of the heterogeneous nature of IgG deficiencies. [emedicine.medscape.com]
Causes of Vitamin B 12 Deficiency States Once vitamin B 12 deficiency is confirmed, a search for the etiology should be initiated. [aafp.org]
Her past history was significant for long-standing anaemia of mild to moderate severity of unknown etiology that did not respond to therapeutic trials with iron or other vitamin supplementations. [jpma.org.pk]
[…] ovalocytosis Synonym(s): - Rh-null syndrome Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological [csbg.cnb.csic.es]
疫学 epidemiologic[al] study 疫学研究 humoral rejection ［reaction］ 液性拒絶[反応] humoral antibody 液性抗体 humoral immunity 液性免疫 echinococcosis エキノコックス症 necrotizing [renal] papillitis 壊死性[腎]乳頭炎 necrotizing pyelonephritis 壊死性腎盂腎炎 S-shaped kidney S型腎 sigmoid colon conduit [glossary.urol.or.jp]
Relevant External Links for RHAG Genetic Association Database (GAD) RHAG Human Genome Epidemiology (HuGE) Navigator RHAG Atlas of Genetics and Cytogenetics in Oncology and Haematology: RHAG No data available for Genatlas for RHAG Gene The monovalent cation [genecards.org]
Detection of insulin resistance by simple quantitative insulin sensitivity check index QUICKI for epidemiological assessment and prevention. J Clin Endocr Metab 2002;87: 144–7. Google Scholar 16. Wallace TM, Levy JC, Matthews DR. [degruyter.com]
Francis Memorial Hospital, S Dritz, MD, City/County Health Dept, San Francisco, J Chin, MD, State Epidemiologist, Calfornia State Dept. of Health Svcs; Field Svcs Div, Epidemiology Program Office, AIDS Activity, Div of Host Factors, Center for Infectious [cdc.gov]
Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.com]
Ongoing basic science and clinical research studies in hematology have improved our understanding of the pathophysiology of blood and coagulation diseases and improved our diagnostic tools. [my.clevelandclinic.org]
Pathophysiology G6PD is an enzyme that catalyzes the first step in the pentose phosphate shunt and provides RBCs with NADPH, need to curtail oxidative stress. The active form of G6PD is a dimer that contains tightly bound NADP. [cancertherapyadvisor.com]
If you are unsensitized Rh-negative, treatment focuses on preventing Rh sensitization during pregnancy and childbirth. Rh immune globulin (such as WinRho) is a highly effective treatment for preventing sensitization. [healthlinkbc.ca]
If you are unsensitized Rh-negative, treatment focuses on preventing Rh sensitization during pregnancy and childbirth. Rh immune globulin (such as RhoGAM) is a highly effective treatment for preventing sensitization. [mottchildren.org]
If the father of your child is Rh-positive or his blood type is unknown, receiving preventive treatment with immune globulins will prevent serious effects. [healthline.com]
The prevention is extremely important, because once sensitization occurs, rhesus immune globulin is no longer effective (13). The 100 µg dose prevents immunization by up to 4-5mL RhD-positive RBCs, that is, about 99% of all fetomaternal hemorrhages. [medichub.ro]
Early diagnosis and treatment is critical to prevent neurologic injury, disability, poor outcomes, and premature death. [pharmacytimes.com]
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