Clinical Manifestation of β-Thalassemia/Hemoglobin E Disease

Fucharoen, Suthat; Ketvichit, Phairawh; Pootrakul, Pensri; Siritanaratkul, Noppadol; Piankijagum, A; Wasi, P

doi:10.1097/00043426-200011000-00022

Cited by 109 publications

(81 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Five (6.94 %) patients in the study group developed PTHN after splenectomy. Fucharoen et al [7] reported cardiovascular complications, including congestive heart failure in 11.9 % of cases.…”

Section: Discussionmentioning

confidence: 99%

“…Splenomegaly often develops in severely affected patients. In the past, splenectomy was routinely performed in an attempt to increase hemoglobin levels [7]. The present study conducted to assess how post-splenectomy Hb E-b thalassaemia patients progress both in terms of clinical profile as well as laboratory investigations.…”

Section: Introductionmentioning

confidence: 99%

“…The clinical picture produced by the interaction is heterogeneous [5]. The marked expansion of erythropoiesis is responsible for much of the pathology of the disease, including hepatosplenomegaly, extramedullary hematopoiesis, bony deformities, growth retardation and delayed sexual maturation [6][7][8]. Splenomegaly often develops in severely affected patients.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Does Profile of Hemoglobin Eβ-thalassemia Patients Change After Splenectomy? Experience of a Tertiary Thalassemia Care Centre in Eastern India

Mandal

Ghosh²,

Bhattacharyya³

2015

Indian J Hematol Blood Transfus

View full text Add to dashboard Cite

Hemoglobin Eb-thalassemia is by far the commonest form of thalassemia intermedia. Its phenotype ranges from mild anemia to severe transfusion-dependency necessitating splenectomy in many patients. The present study aimed to systematically analyze both clinical as well as laboratory parameters in profile of Eb-thalassemia patients after splenectomy in terms of transfusion requirement, infections and other complications. Retrospective study conducted over a period of 3 years included 72 cases of splenectomized Eb-thalassaemia patients, considering decrease in transfusion requirements, new complications, antibiotic, anti-malarial prophylaxis and iron chelation therapy. Out of 1380 registered Eb-thalassemia patients, 618 (44.78 %) were regularly transfused and 72(5.22 %) underwent splenectomy. Mean age of diagnosis was 10.3 years. Nineteen patients (26.4 %) underwent splenectomy between 5 and 10 years, 38 cases (52.7 %) between 10 and 20 years. The leading cause (51.39 %) for splenectomy was mechanical discomfort. Mean steady state hemoglobin raised from pre-splenectomy level of 5.43-6.8 gm/dl after splenectomy. Mean transfusion requirement reduced from 18.1 to 7.8 units/year. Mean serum ferritin level increased from 907.58 to 1,091.6 ng/ml. Post-splenectomy; 21 (29.17 %) patients developed facial deformities, 17 (23.6 %) delayed pubertal growth, 11 (15.28 %) venous thromboembolism, five (6.94 %) pulmonary hypertension and four (5.5 %) had extramedullary hematopoiesis. Five (6.96 %) patients had documented bacterial infections and two (2.78 %) suffered from malaria. Forty eight patients (66.67 %) started with iron chelation therapy; but majority (52.7 %) stopped. Major advantage of splenectomy is reduced transfusion requirement, though it cannot prevent skeletal abnormalities and delayed pubertal growth. In resource constraint countries like India, routine anti-malarial and antibacterial prophylaxis is not desirable; iron chelation therapy should be encouraged and ensured.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Does Profile of Hemoglobin Eβ-thalassemia Patients Change After Splenectomy? Experience of a Tertiary Thalassemia Care Centre in Eastern India

Mandal

Ghosh²,

Bhattacharyya³

2015

Indian J Hematol Blood Transfus

View full text Add to dashboard Cite

show abstract

“…SCD patients are not the only patients with congenital hemolytic anemia to develop skin ulcerations, and they have been reported in thalassemia intermedia [18], hereditary spherocytosis [19], pyruvate kinase deficiency [20], and congenital dyserythropoietic anemia [21]. Ulcer prevalence in other types of congenital hemolytic anemias is not known, but their occurrence suggests that sickling is not a conditio sine qua non for ulcer formation, while chronic anemia and hemolysis appear to be common factors.…”

Section: Epidemiologymentioning

confidence: 99%

Critical Reviews: How we treat sickle cell patients with leg ulcers

Minniti

Kato

2015

American J Hematol

View full text Add to dashboard Cite

The past five decades have seen an improvement in the mortality and morbidity of sickle cell disease (SCD) because of prophylaxis against infectious complications, improved and expanded red cell transfusions, implementation of hydroxyurea therapy, and advances in supportive care. Now that the majority of patients in the western hemisphere reaches adulthood, end organ diseases are frequent, which include vasculopathic complications such as chronic leg ulcers. The management of patients with leg ulcers requires the hematologist to lead a team of health care professionals, and investigates the presence of associated, but potentially still occult signs of vasculopathy, such as pulmonary hypertension, renal disease, priapism and retinopathy. These complications may be asynchronous, and long term careful screening is indicated, in order to ensure early diagnosis and intervention. It is crucial to address both the immediate consequences of pain, infection and disability, and long term effects on quality of life, employment and stigma associated with chronic ulceration. Recent insights into their pathophysiology may have practical implications. We propose a holistic approach to the management of patients' physical and emotional problems and mechanisms of ulcers formation and delayed healing. An overview of topical and systemic therapies for chronic ulcers is given, with the understanding that wound care therapy is best left to the wound specialists, medical and surgical, with whom the hematologist must keep an open line of communication. In the absence of evidence-based guidelines, our opinion is based on both a critical review of the literature and our personal clinical and research experience. Am. J. Hematol. 91:22-30, 2016. V C 2015 Wiley Periodicals, Inc. Clinical CasesCase 1. A 49 year old African American woman with sickle cell anemia, bilateral hip replacements for avascular necrosis of the femoral head, pulmonary arterial hypertension documented by pulmonary artery catheterization, and history of laser treatment and vitrectomy for proliferative retinopathy and vitreous hemorrhage, presented with a very painful ulcer at the right malleolus. She has had three previous ulcers, on both legs, the first at age 32 years, attributed to excessive standing at her job, no trauma, which had responded to topical care and healed within few months of presentation. At that time she was not taking hydroxyurea, but has been taking it now for longer than 10 years with good fetal hemoglobin response: 17%. This current ulcer developed while she was experiencing high personal stress but no physical trauma. She rarely experiences vaso-occlusive pain crisis and has very infrequent hospitalizations. She was referred to the wound care service and after 7 months of unfruitful therapies, including surgical debridement, MIST ultrasound therapy, antibiotics, and compressions, she was started on monthly transfusions and her ulcer healed 5 months later. She has had consistently elevated serum lactate dehydrogenase (LDH) (>600 IU/L), serum dire...

show abstract

“…The clinical and hematological parameters in patients with HbE/ β-thalassemia vary from patient to patient [3][4][5][6][7]. The phenotypic variability of this co-inheritance and the lack of understanding of the possible mechanisms have imposed greater challenges in the management of Hb E/β-thalassemia affected individuals [8].…”

Section: Introductionmentioning

confidence: 99%

Prenatal Screening for Co-Inheritance of Sickle Cell Anemia and β-Thalassemia Traits

Dhawan¹,

Chaudhary²,

Chandratre³

et al. 2016

Clin Med Biochemistry Open Access

View full text Add to dashboard Cite

Co-inheritance of sickle cell anemia and β-thalassemia traits require medical attention. Individuals with sickle cell and β-thalassemia disorders produce abnormal form of hemoglobin or decreased synthesis or complete absence of the β-globin chains of hemoglobin. Therefore, affected individuals might require blood transfusions at regular intervals. Prenatal diagnosis of fetal hemoglobinopathy should be offered when the fetus is at risk of being affected. The aim of this study was to assess the applicability of the nucleotide sequencing method in the identification of both diseases and to identify and counsel asymptomatic parents to make reproductive choices. We demonstrate the ability to detect these traits in a family, which was suspected to be carrying β-thalassemia mutations as per the clinician.

show abstract

Clinical Manifestation of β-Thalassemia/Hemoglobin E Disease

Cited by 109 publications

References 14 publications

Does Profile of Hemoglobin Eβ-thalassemia Patients Change After Splenectomy? Experience of a Tertiary Thalassemia Care Centre in Eastern India

Does Profile of Hemoglobin Eβ-thalassemia Patients Change After Splenectomy? Experience of a Tertiary Thalassemia Care Centre in Eastern India

Critical Reviews: How we treat sickle cell patients with leg ulcers

Prenatal Screening for Co-Inheritance of Sickle Cell Anemia and β-Thalassemia Traits

Contact Info

Product

Resources

About