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Thalassemia Reports, Volume 12, Issue 3

September 2022 - 8 articles

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Articles (8)

  • Feature Paper
  • Review
  • Open Access
5 Citations
5,525 Views
12 Pages

9 September 2022

Thalassemia is a disease of erythrocytes that varies largely on its genetic composition and associated clinical presentation. Though some patients may remain asymptomatic, those with a complicated course may experience severe anemia early in childhoo...

  • Article
  • Open Access
1 Citations
15,558 Views
18 Pages

6 September 2022

We investigated the impact of three marriageable actions: normal-to-carrier, carrier-to-normal, and carrier-to-carrier marriages on thalassemia and carrier populations. The well-known strategy is limiting the carrier-to-carrier marriage to reduce the...

  • Case Report
  • Open Access
1 Citations
2,312 Views
4 Pages

29 August 2022

This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & &alph...

  • Article
  • Open Access
3 Citations
5,490 Views
11 Pages

11 August 2022

Patients with thalassemia (Thal) engage in less physical activity than non-Thal populations, which may contribute to pain and osteoporosis. The purpose of this study was to assess relationships between physical activity, pain, and low bone mass in a...

  • Case Report
  • Open Access
1 Citations
2,307 Views
5 Pages

A Patient with Sickle Cell Disease and Recurrent Venous Thromboembolism after Renal Transplantation

  • Rosario Di Maggio,
  • Alessandra Giuliano,
  • Disma Renda,
  • Giuseppina Calvaruso,
  • Simona Raso,
  • Lorella Pitrolo,
  • Antonio Carroccio and
  • Aurelio Maggio

Venous thromboembolism (VTE) is a life-threatening complication, especially in case of recurrence. The appropriate duration of anticoagulant treatment following the first event is crucial. Risk factors that increase the risk of recurrence of VTE are...

  • Systematic Review
  • Open Access
3 Citations
4,623 Views
12 Pages

Molecular Heterogeneity of Hb H Disease in India

  • Pallavi Thaker,
  • Namrata Mahajan,
  • Malay B. Mukherjee and
  • Roshan B. Colah

Alpha thalassemia is an autosomal recessive disorder caused by large deletions and/or point mutations in the α- globin genes. Hemoglobin H (Hb H) disease is most frequently due to deletion of three of the four α globin genes associated wi...

  • Article
  • Open Access
1 Citations
2,435 Views
18 Pages

Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability

  • Stefania Byrou,
  • George Christopoulos,
  • Agathoklis Christofides,
  • Christiana Makariou,
  • Christiana Ioannou,
  • Marina Kleanthous and
  • Thessalia Papasavva

The assignment of alleles to haplotypes in prenatal diagnostic assays has traditionally depended on family study analyses. However, this prevents the wide application of prenatal diagnosis based on haplotype analysis, especially in countries with dis...

  • Case Report
  • Open Access
1 Citations
2,256 Views
4 Pages

Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

  • Hossein Jalali,
  • Mohammad Reza Mahdavi,
  • Mahan Mahdavi and
  • Adeleh Abbasi

This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family. This variant gives rise to a previously undescribed haemo...

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Thalass. Rep. - ISSN 2039-4365