Sickle cell anemia is qualitative or quantitative

The relative quantities of sickle cell hemoglobin were determined in 63 individuals heterozygous for Hb-S and in 6 individuals heterozygous for Hb-S as well as for the δ chain abnormality Hb-A 2'. These studies failed to demonstrate the existence of more than one modality in the relative concentration of Hb-S in these trait carriers. The relative amounts of Hb-A 2 in AS carriers and of the sum of Hb-A 2 and Hb-A 2' in ASA 2A 2' carriers were found to be significantly higher than in normal individuals. Structural studies of the β-S chains isolated from the abnormal hemoglobins observed in a 12-year-old Negro girl and a 52-year-old Negro woman both suffering from homozygous Hb-S disease failed to demonstrate the presence of additional amino acid substitutions. These studies were limited to analyses of the total amino acid compositions of the isolated β-S chains and of the peptides isolated from the tryptic digests of these chains by cation exchange chromatography. Citation Excerpt : Further studies should be performed in order to address this issue. The heterozygous form of SCD (HbAS or sickle cell trait) is characterized by a smaller proportion of HbS [39]. Interestingly, muscle force parameters of HbAS mice were almost systematically intermediate between the HbSS and HbAA mice. Skeletal muscle function has been scarcely investigated in sickle cell disease (SCD) so that the corresponding impact of sickle hemoglobin is still a matter of debate. The purpose of this study was ...

The identification of chronic pain and neuropathic pain as common contributors to the overall pain experience of patients with sickle cell disease (SCD) has altered the way we should evaluate difficult-to-treat pain. The recognition of these 2 entities is not generally routine among various medical specialties and provider levels that treat SCD. Due to the relative recency with which neuropathic pain was first described in SCD, validated assessment tools and evidence-based treatments remain lacking. Although clinical assessment and judgment must continue to inform all decision making in this understudied area of SCD pain management, a number of validated neuropathic pain assessment tools exist that can make possible a standardized evaluation process. Similarly, investigation of available neuropathic pain treatments for the uniquely complex pain phenotypes of SCD has only just begun and is better established in pain conditions other than SCD. The aim of this review is to briefly summarize the proposed basic pathophysiology, assessment, and treatment of neuropathic pain in patients with SCD. Furthermore, the aim of this review is to encourage an expanded framework for the assessment and treatment of SCD pain that appreciates the hidden complexities of this common complication of SCD. Learning Objectives • Recognize the complex nature of sickle cell pain • Understand the proposed basic pathophysiology of neuropathic pain in sickle cell disease • Recognize that although robust...

2 - 3 days Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary. False-positive solubility test for sickling may be due to polycythemic blood; interference by some forms of hyperglobulinemia; and a variety of abnormal hemoglobins, including I, Bart, C Georgetown, Alexandra, C Harlem, Porto Alegre, Memphis/S, C Ziguinchor, and S Travis. 1 Positive tests should be confirmed by hemoglobin fractionation. A positive reaction also occurs in the presence of many Heinz bodies (eg, after splenectomy), and in blood protein disorders due to precipitation of plasma proteins. False-negative solubility test reactions may occur with inadequate quantities of blood from anemic patients (hemoglobin levels <8.0 g/dL); high concentration of Hb F or of phenothiazines may inhibit the sickle reaction; 1 quantities of hemoglobin S too small to detect, as at birth or with transfusions of nonhemoglobin S into patients with hemoglobin S. The appearance of hemoglobin S is genetically delayed and is not present in sufficient quantity until after three months of age. Maximum levels are not reached until about six months of age. Solubility tests are unlikely to be reliably positive until after six months of age; therefore, this test should not be used for testing neo...

Hemoglobin electrophoresis is the process healthcare providers use to analyze hemoglobin in your red blood cells. Hemoglobin electrophoresis helps diagnose serious conditions like sickle cell anemia. It’s also one of several tests that screen newborn babies for sickle cell anemia and other rare but serious illnesses. Overview What is hemoglobin electrophoresis? Hemoglobin electrophoresis (pronounced he-ma-glow-bin elek-tro-fo-re-sus) is one process that healthcare providers use to analyze hemoglobin in your red blood cells. Hemoglobin is a protein in your red blood cells that helps cells carry oxygen throughout your body. Sometimes, the gene controlling your hemoglobin changes or mutates, turning healthy red blood cells into damaged cells. These damaged cells can break down and cause anemia and other Hemoglobin electrophoresis helps healthcare providers diagnose those conditions. This test is also one of several tests that screen newborn babies for signs of sickle cell anemia and other rare but serious illnesses. What’s the difference between a hemoglobin test and hemoglobin electrophoresis? What are the different hemoglobin types? Healthcare providers typically test for the four common hemoglobin types: • Hemoglobin Types A11 and A2 (HgbA1 and A2) : Hemoglobin A11 accounts for most of the hemoglobin in your normal red blood cells. Hemoglobin A2 accounts for about 2% to 3 % of your total hemoglobin. • Hemoglobin Type F (HgbF): Normally, this hemoglobin type accounts for th...

Sickle cell disease (SCD) and β-thalassemia are among the most common inherited diseases, affecting millions of persons globally. It is estimated that 5–7% of the world’s population is a carrier of a significant hemoglobin variant. Without early diagnosis followed by initiation of preventative and therapeutic care, both SCD and β-thalassemia result in significant morbidity and early mortality. Despite great strides in the understanding of the molecular basis and pathophysiology of these conditions, the burden of disease remains high, particularly in limited resource settings. Current therapy relies heavily upon the availability and safety of erythrocyte transfusions to treat acute and chronic complications of these conditions, but frequent transfusions results in significant iron overload, as well as challenges from acquired infections and alloimmunization. Hydroxyurea is a highly effective treatment for SCD but less so for β-thalassemia, and does not represent curative therapy. As technology and use of cellular and gene therapies expand, SCD and thalassemia should be among the highest disease priorities. Keywords • Sickle cell disease • β-thalassemia • Beta globin • Hemoglobin • Iron overload • Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010; 115: 4331-6. • Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008; 86: 480-7. • Weatherall DJ. Single g...