Presentation
A 13 year old female presented with hemolytic anaemia, hepatosplenomegaly and occasional pain in abdomen. Initially, she was thought to be a case of sickle cell anaemia, however, with the help of HPLC it was confirmed as Hb SD disease. [tsijournals.com]
Presents an all-new full-color design that includes clear illustrative examples of relevant science and clinical problems for quick access to the answers you need. [books.google.de]
Here we present a case of homozygous Hb D with alpha 3.7kb deletion and phenotypic effect on patients. [rossscience.org]
With no deletions, there is approximately 20% HbG, with one deletion about 30% G is present, and with two about 40% is present. *** Also known as D Punjab (same mutation) # Not a mutation, Lepore is the product of the indicated crossover during meiosis [wardelab.com]
Cardiovascular
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Chest Pain
Acute chest syndrome When sickle cells block flow blood flow in the lungs, usually when there is also a lung infection, this can cause chest pain, fluid build up in the chest, and insufficient oxygen delivered to the body. [vanderbilthealth.com]
It causes severe chest pain and is associated with symptoms such as cough, fever, sputum production, shortness of breath, and low blood oxygen levels. [healthline.com]
Acute chest syndrome, due to vaso-occlusion, is a lung injury that can cause symptoms such as coughing, chest pain, and fever. This condition requires prompt medical attention. It can develop rapidly and become life-threatening. [labtestsonline.org]
These crises are transient, they continue for 3–4 hours and may last for one day. [24] Acute chest syndrome [ edit ] Acute chest syndrome (ACS) is defined by at least two of the following signs or symptoms: chest pain, fever, pulmonary infiltrate or focal [en.wikipedia.org]
Liver, Gall & Pancreas
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Hepatosplenomegaly
A 13 year old female presented with hemolytic anaemia, hepatosplenomegaly and occasional pain in abdomen. Initially, she was thought to be a case of sickle cell anaemia, however, with the help of HPLC it was confirmed as Hb SD disease. [tsijournals.com]
Eyes
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Retinal Hemorrhage
However, gross hematuria, retinal hemorrhages, and aseptic necrosis of the femoral head are common. Splenomegaly may be present. [merckmanuals.com]
History Retinal hemorrhage associated with SCD was first published in a case report by Cook in 1930. [eyewiki.aao.org]
Neurologic
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Aphasia
When he was 10 years of age, the patient had an ischemic stroke with aphasia and right hemiplegia a few days after HU treatment was initiated. MRI revealed infarctions of the left frontal supraorbital region and the central gyrus. [bloodjournal.org]
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Babinski Sign
By 28 months after the last stroke, all neuromotor abnormalities had disappeared, except for inconstant right Babinski sign, mild weakness in the right arm, and asymmetric tendon reflexes. [bloodjournal.org]
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Somnolence
When he was 8 years old, a decrease in school performance was observed, and he had episodes of somnolence and ataxia. A viral infection was followed by a transient right hemiparesis. [bloodjournal.org]
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Ataxia
When he was 8 years old, a decrease in school performance was observed, and he had episodes of somnolence and ataxia. A viral infection was followed by a transient right hemiparesis. [bloodjournal.org]
Workup
Serum
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Microcytosis
However, in that case, the variant form of HbA2 together with microcytosis from the two alpha gene deletions would point to the correct interpretation. [wardelab.com]
Alpha Thalassemia Syndromes Identified by Neonatal Screening Screening Results Possible Condition Clinical Manifestations FA Bartís Alpha-thalassemia silent carrier Alpha-thalassemia minor Hb H disease Hb H Constant Spring Normal CBC Microcytosis with [sickle.bwh.harvard.edu]
They may become increasingly anemic when the body cannot keep up with the rapid RBC destruction, resulting in a condition known as hemolytic anemia, smaller than normal red cells ( microcytosis ), and an increased number of newly produced red cells called [labtestsonline.org]
The literature reports that the homozygous and heterozygous states of -α 3.7Kb -thal, are characterized by mild anemia, hypochromia and microcytosis. [bmchematol.biomedcentral.com]
Erythrocyte morphology is markedly abnormal, with prevalent microcytosis, target cells ( 90%), spherocytes, and crystallized hemoglobin [26, 25, 27]. [emedicine.medscape.com]
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Erythrocytosis
It is usually a synonym for erythrocytosis except when it is a primary disease. Polycythemia Vera – Is a primary blood disorder characterized by proliferation of red blood cells, white bloods and platelets, but particularly red blood cells. [prohealthinsight.com]
Erythrocytosis was observed in the propositus and her father. Iron deficiency anemia was excluded by the normal serum iron, normal TIBC and ferritin concentrations. [annsaudimed.net]
Treatment
After bilateral extracranial–intracranial (EC-IC) bypass surgery, hydroxyurea treatment increased hemoglobin F (HbF) levels to more than 30%. [bloodjournal.org]
There is no single best treatment for all people with SCD. Treatment options are different for each person depending on the symptoms. Learn about complications and treatments » Cure The only cure for SCD is bone marrow or stem cell transplant. [cdc.gov]
Treatment may include medications to reduce pain and prevent complications blood transfusions and supplemental oxygen, as well as bone marrow transplant. [healthlifemedia.com]
Expected Outcomes Treatments can help relieve some of the signs, symptoms, and complications of S, C disease (Hb S/C). Children who receive early and on-going treatment can live healthy lives. [babysfirsttest.org]
Treatments Treatments Individualized treatment plans are given based on your child's age, weight and tolerance for certain medicines. Some treatment options could include: Penicillin. [rileychildrens.org]
Prognosis
It is associated with a poorer prognosis. Hemoglobin SD, hemoglobin SE, and hemoglobin SO These types of sickle cell disease are more rare and usually don’t have severe symptoms. [healthline.com]
While hip-hop is often filled with bravura and braggadocio (and Prodigy did both to excess, both in life and on wax), he was often vulnerable and honest about his prognosis. [theroot.com]
[…] stroke [1] Complications Chronic pain [2] Usual onset 5–6 months of age [1] Causes Genetic [3] Diagnostic method Blood test [4] Treatment Vaccination, antibiotics, high fluid intake, folic acid supplementation. pain medication, blood transfusions [5] [6] Prognosis [en.wikipedia.org]
Field JJ, Vichinsky EP, DeBaun MR (2014) Overview of the management and prognosis of sickle cell disease. UpToDate. Schrier SL, Mahoney Jr DH, Tirnauer JS. (Eds). [omicsonline.org]
Etiology
[…] body system manifestations due to the underlying etiology. [icd10data.com]
Although 30 episodes of pneumonia or chest syndrome occurred in 20 of the patients, a bacterial etiology was proven in only three instances. Splenic function was usually impaired, with a mean pit count of 7.1% 8.2% (range 0% to 22.9%). [pediatrics.aappublications.org]
Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches. Sci World J, 8 (2008), pp. 1295-1324 [2] M.H. Steinberg, P. Sebastiani. Genetic modifiers of sickle cell disease. [rbhh.org]
The prevalence of anemia increases with age and is 44.4 percent in men 85 years and older. 5 Although the elderly are more prone to develop anemia, older age is not of itself a cause of the condition. 6 Etiology Normocytic anemias may be thought of as [aafp.org]
Genetic etiologies for phenotypic diversity in sickle cell anemia. ScientificWorldJournal. 2009;9: 46–67. pmid:19151898 View Article PubMed/NCBI Google Scholar 4. Serjeant GR. The natural history of sickle cell disease. [journals.plos.org]
Epidemiology
Abstract Although the epidemiology and pathophysiology of serious bacterial infection in homozygous sickle cell anemia (SS disease) have become increasingly well understood, information about infection risk and splenic reticuloendothelial function in [pediatrics.aappublications.org]
Multivariate associations with eGFR (Chronic Kidney Disease Epidemiology Collaboration; hemoglobin SS and hemoglobin SC: the Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy Trial) Table 3. [cjasn.asnjournals.org]
Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran. Biomed Res Int, 2013 (2013), pp. 803487 [39] H. Wajcman, K. Moradkhani. Abnormal haemoglobins: detection and characterization. [rbhh.org]
Epidemiology Given the proposed survival advantage conferred by Hb C against malaria, it is not surprising that Hb C appears to have originated on the west coast of Africa. [emedicine.medscape.com]
Pathophysiology
Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.de]
Abstract Although the epidemiology and pathophysiology of serious bacterial infection in homozygous sickle cell anemia (SS disease) have become increasingly well understood, information about infection risk and splenic reticuloendothelial function in [pediatrics.aappublications.org]
Disorders of hemoglobin genetics, pathophysiology, and clinical management, 1st ed., pp. 786-810 [26] H. Villanueva, S. Kuril, J. Krajewski, A. Sedrak. [rbhh.org]
Thus, ANXA1 may have an important participation in the SCD pathophysiology. [journals.plos.org]
Prevention
Longer follow-up times and comparative studies are needed for an examination of the efficacy of HU to prevent the progression of CNS disease in SCD. [bloodjournal.org]
Preventing Sickle Cell Symptoms Complications of sickle cell disease can be avoided by preventing red blood cells from becoming sickle-shaped. [vanderbilthealth.com]
Vaccinations to Prevent Infections Childhood vaccinations are crucial for preventing diseases in all children. However, these vaccinations are even more essential for children with sickle cell anemia. [healthlifemedia.com]
According to the Centers for Disease Control and Prevention, pneumonia is a leading cause of death in children with sickle cell disease. [labtestsonline.org]
They also have another abnormal form of hemoglobin, called hemoglobin D, which prevents red blood cells from carrying oxygen effectively. Both hemoglobin S and hemoglobin D result from particular mutations in the HBB gene. [newbornscreeningcodes.nlm.nih.gov]