History of multiple blood transfusions was present. Family history was noncontributory. On examination, pallor was noted along with splenomegaly (5 cms below costal margin). [imagebank.hematology.org]

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]

Since patients with hemoglobin S-D disease present with anemia, circulating sickle cells in the venous blood, and a hemoglobin that migrates with hemoglobin S on paper electrophoresis at pH 8.6, they are frequently diagnosed as sickle cell anemia. [annals.org]

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]

• Turkish

  There was also a period of Turkish rule in this region. [annsaudimed.net]

  Haemoglobin S-D disease in a Turkish family. Scand. J. Haemat. 7, 10–14 (1969) Google Scholar 11. Ratcliff, R. G., Wolf, M.: Avascular necrosis of the femoral head associated with sickle cell trait (AS hemoglobin). Ann. Int. [link.springer.com]

  […] bp Located at: β Specific Location: Exon 3 Other details Type of Mutation: Point-Mutation(Substitution) Effect on Gene/Protein Function: Missense codons (Protein Structure) Ethnic Origin: Australian, Chinese, Dutch, English, Greek, Indian, Pakistani, Turkish [ithanet.eu]

  Mediterranean Haplotype I (+−−−−++) which is the most common and found in populations of Mexico,22 Italy10 and Iran.23 A second recently discovered pattern was associated to Hb D-Punjab cases in Thailand (−++−+++)8 and the third haplotype was found in Turkish [htct.com.br]

• Hypertension

  Serum bicarbonate in sickle cell disease (SCD; the Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy Trial). [cjasn.asnjournals.org]

  21.8 22.1 21.6 0.13 Diagnosed coronary artery disease 36.1 36.0 36.1 0.70 Prior ischemic stroke 11.3 12.2 10.7 Prior transient ischemic attack 6.4 6.5 6.4 0.99 Prior peripheral arterial disease 12.9 14.8 11.5 Diabetes mellitus 32.4 36.1 29.7 Diagnosed hypertension [circ.ahajournals.org]

  Pulmonary hypertension occurs in about 10 percent of adults with sickle cell disease. Frequency Sickle cell disease affects millions of people worldwide. [medlineplus.gov]

  Acute kidney injury in sickle patients with painful crisis or acute chest syndrome and its relation to pulmonary hypertension. [msjonline.org]

  Lung disease Damage to the lungs over time related to decreased blood flow can result in high blood pressure in the lungs ( pulmonary hypertension ) and scarring of the lungs ( pulmonary fibrosis ). [healthline.com]

• Background Retinopathy

  retinopathy, proliferative retinopathy, vitreous haemorrhages, and retinal detachments can result in blindness. [72] Regular annual eye checks are recommended. [en.wikipedia.org]

• Dizziness

  When this happens, a person might have the following symptoms: Fatigue Irritability Exercise intolerance Dizziness and lightheadedness Fast heart rate Difficulty breathing Pale skin color Jaundice (yellow color in the whites of the eyes from red cell [vanderbilthealth.com]

  In addition, a study from Sri Lanka found that people with β-thalassemia trait had symptoms suggestive of anaemia, including lethargy, fatigue and dizziness compared with normal subjects, and they visited their physicians more frequently.18 Surprisingly [jcp.bmj.com]

  Those affected may experience fatigue, decreased stamina, dizziness, paleness, shortness of breath, and an increased heart rate. Anemic children may grow and develop more slowly. [labtestsonline.org]

• Uremia

  Anemia secondary to uremia is characterized by inappropriately low erythropoietin levels, in contrast to the normal or high levels that occur with most other causes of anemia. [aafp.org]

• Kidney Failure

  If not treated, patients may die within 1–2 hours due to circulatory failure. Management is supportive, sometimes with blood transfusion. [en.wikipedia.org]

• Renal Insufficiency

  […] involvement * Hyposthenuria * Glomerulopathy- End stage renal disease * Microalbuminuria * Renal insufficiency - Contrast and analgesic nephropathies Pulmonary involvement - Pulmonary emboli - Restrictive lung disease- Acute chest syndrome - Pulmonary [omicsonline.org]

The laboratory workup included the following: Complete blood count: It was done using an automated (Mindray BC 6800 Shenzhen, China) 7-part hematology analyzer Hb variants were studied using HPLC/beta-thalassemia short program with two systems: Bio-Rad [jahjournal.org]

• Hypertriglyceridemia

  Hypertriglyceridemia and increased very low-density lipoprotein cholesterol (VLDL-C) were observed in SCA patients in this study, although these results were not statistically significant. [bmchematol.biomedcentral.com]

After bilateral extracranial–intracranial (EC-IC) bypass surgery, hydroxyurea treatment increased hemoglobin F (HbF) levels to more than 30%. [bloodjournal.org]

This was a treatment study, and it included only patients with frequent and severe vaso–occlusive episodes. [cjasn.asnjournals.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]

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]

It can further be employed for confirmation, prognosis or treatment of putative haemoglobinopathies that may harm the patient or his/her offspring, or as was done in this case series, for a phenotype–genotype correlation. [jcp.bmj.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]

[…] 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. View Article PubMed Google Scholar Rees DC, Gibson JS. Biomarkers in sickle cell disease. Br J Haematol. 2012;156(4):433–45. [bmchematol.biomedcentral.com]

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]

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]

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]

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]

Sickle-Cell Disease Diagnosis Sickle-Cell Disease Pathophysiology Sickle-Cell Disease Genetics [news-medical.net]

Diagnosis and pathophysiology The diagnosis of SCD relies on the analysis of haemoglobin, most commonly using either protein electrophoresis or high-performance liquid chromatography. [adc.bmj.com]

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]

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]

Early prevention and education improves the quality of lives of children. Children with a positive screen are referred to a hematologist, a doctor who specializes in the condition. [rileychildrens.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]