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Thalassemia Reports, Volume 16, Issue 3

2026 September - 4 articles

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Articles (4)

  • Case Report
  • Open Access
141 Views
8 Pages

A Novel α-Globin Gene Variant: Hb Romagna [α61(E10)Lys>Gln; HBA1:c.184A>C] Co-Inherited with Hb A2-Lampang [δ47(CD6)Asp>Asn; HBD:c.142G>A] in an Italian Diabetic Woman

  • Marco Rosetti,
  • Giovanni Poletti,
  • Melania Olivieri,
  • Massimo Mogni,
  • Massimo Maffei,
  • Abbate Noemi,
  • Pisani Raffaele,
  • Sauro Maoggi,
  • Domenico Coviello and
  • Giovanni Ivaldi

Background: Screening for hemoglobinopathies, particularly in Mediterranean countries, is primarily aimed at preventing beta-thalassemia. However, during such screening, numerous other Hb defects can be diagnosed, each with different clinical signifi...

(This article belongs to the Section Conventional Treatment of Thalassemia)
  • Case Report
  • Open Access
255 Views
10 Pages

Molecular Identification and Familial Segregation of the Hb Malay (HBB:c.59A>G) Variant in a Three-Generation Indonesian Family

  • Chris Adhiyanto,
  • Achmad Zaki,
  • Gema Puspa Sari,
  • Mella Ferania,
  • Yona Mimanda,
  • Laifa Annisa Hendarmin,
  • Suryani,
  • Rini Puspitaningrum,
  • Ayu Latifah and
  • Saruda Intachote
  • + 2 authors

Background/Objectives: Beta-thalassemia (β-thal) is an inherited hemoglobin disorder caused by mutations in the HBB gene. Hb Malay (HBB:c.59A>G [NM_000518.5], p.Asn20Ser, CD19), a missense substitution (AAC→AGC; Asn→Ser) in exon 1 o...

  • Article
  • Open Access
1,050 Views
11 Pages

Molecular Characterization of HBB Gene Variations in Beta-Thalassemia Patients from Khyber Pakhtunkhwa, Pakistan

  • Shahzad Ahmad,
  • Laiba Khan,
  • Muhammad Mustafa,
  • Yousaf Khan,
  • Syed Farooq Shah,
  • Fuzail Ahmad,
  • Taimoor Khan,
  • Muhammad Asif Zeb,
  • Qaiser Zaman and
  • Musharraf Jelani

Background: Beta-thalassemia is a hereditary hematological illness in which beta-globin chain synthesis is missing or decreased, resulting in inefficient erythropoiesis, persistent hemolysis, and anemia. It is most frequently observed in populations...

(This article belongs to the Special Issue Genetic Approach in Diagnosis and Following Up of Patients With Thalassemia)
  • Review
  • Open Access
332 Views
27 Pages

β-thalassemia is one of the most prevalent inherited hemoglobin disorders worldwide and represents a major public health challenge in Southeast Asia, particularly in Vietnam. The disorder is caused by pathogenic variants in the β-globin (HB...

(This article belongs to the Collection Feature Papers in Thalassemia Reports)
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Thalass. Rep. - ISSN 2039-4365