List of Thalassaemia Mutation Panel
Appendix: Thalassasmia Mutation Panel List
Discover our comprehensive Thalassaemia Mutation Panel Testing services, aimed at providing valuable insights into the genetic landscape of this inherited red blood cell disorder. Thalassaemia, a condition affecting haemoglobin production and causing varying degrees of anemia, can now be better understood through our specialized ThalaCheck® DNA test. This innovative test empowers expectant parents who are Thalassaemia carriers to gain crucial information about their baby's Thalassaemia status. Our Mutation Panel covers both alpha and beta Thalassaemia mutations, offering a thorough analysis that ensures informed decision-making and early intervention, leading to better health outcomes for your baby. Explore our Thalassaemia Mutation Panel Testing to embark on a journey of proactive care and knowledge.
| Thalassaemia Mutation Panel (DNA LAB) | Thala Mutation Type |
|---|---|
| -α3.7 | Alpha (α) Large Deletion |
| -α4.2 | Alpha (α) Large Deletion |
| --SEA | Alpha (α) Large Deletion |
| --THAI | Alpha (α) Large Deletion |
| --FIL | Alpha (α) Large Deletion |
| Initiation codon (A->G) | Alpha (α) 2 Point Mutation |
| Initiation codon (T->C) | Alpha (α) 2 Point Mutation |
| Initiation codon (T->G) | Alpha (α) 2 Point Mutation |
| Initiation codon (-T) | Alpha (α) 2 Point Mutation |
| Hb Codon 8 (-C) | Alpha (α) 2 Point Mutation |
| Codon 7 (A->T) | Alpha (α) 2 Point Mutation |
| Hb Codon 14 (TGG->TTG) | Alpha (α) 2 Point Mutation |
| Hb Souli/ Codon 13_14 (-GCCTGG) | Alpha (α) 2 Point Mutation |
| Codon 14 G->A | Alpha (α) 2 Point Mutation |
| Hb Dapu/ Codon 17 (GTC->TTC) | Alpha (α) 2 Point Mutation |
| Codon 19 (-G) | Alpha (α) 2 Point Mutation |
| Codons 21/22 (+T) | Alpha (α) 2 Point Mutation |
| Codon 22 C->T | Alpha (α) 2 Point Mutation |
| Codon 23 (GAG->TAG) | Alpha (α) 2 Point Mutation |
| Codon 24 (T->G) | Alpha (α) 2 Point Mutation |
| Hb Cibeles/ Codon 25 (GGT->GAT) | Alpha (α) 2 Point Mutation |
| Hb Agrinio/ Codon 29 (CTG->CCG) | Alpha (α) 2 Point Mutation |
| Codon 30 (-GAG) | Alpha (α) 2 Point Mutation |
| Hb Maranon/ Codon 31 (AGG->GGG) | Alpha (α) 2 Point Mutation |
| Codon 31 (AGG->AAG) | Alpha (α) 2 Point Mutation |
| IVS I-1 (G>T) | Alpha (α) 2 Point Mutation |
| IVS I-5 (G>A) | Alpha (α) 2 Point Mutation |
| IVS-I donor site (GAGGTGAGG->GAG G- - - - -) | Alpha (α) 2 Point Mutation |
| IVS I-55 G>A | Alpha (α) 2 Point Mutation |
| IVS-I-116 (A->G) | Alpha (α) 2 Point Mutation |
| IVS-I-117 (G->A) | Alpha (α) 2 Point Mutation |
| Hb Colorado/ Codon 35 (TCC->TTC) | Alpha (α) 2 Point Mutation |
| Codon 37 (-C) | Alpha (α) 2 Point Mutation |
| Codon 43 (-T) | Alpha (α) 2 Point Mutation |
| Codon 47 (-A) | Alpha (α) 2 Point Mutation |
| Codon 49 (-GC) | Alpha (α) 2 Point Mutation |
| Codons 51/52 (+G) | Alpha (α) 2 Point Mutation |
| Hb Adana/ Codon 59 (GGC->GAC) | Alpha (α) 2 Point Mutation |
| Codon 63-76 (-42bp) | Alpha (α) 2 Point Mutation |
| IVS II-2 (T>A) | Alpha (α) 2 Point Mutation |
| Hb Bishoptown/Codon 101 (CTA>CCA) | Alpha (α) 2 Point Mutation |
| Hb Iberia/ Codon 104 (TGC->CGC) | Alpha (α) 2 Point Mutation |
| Hb Sallanches/ Codon 104 (TGC->TAC) | Alpha (α) 2 Point Mutation |
| Hb Suan-Dok/ Codon 109 (CTG->CGG) | Alpha (α) 2 Point Mutation |
| Hb Petah Tikva/ Codon 110 (GCC->GAC) | Alpha (α) 2 Point Mutation |
| Codon 115 (+CC) | Alpha (α) 2 Point Mutation |
| Codon 114 (CCC->CC-) | Alpha (α) 2 Point Mutation |
| Codon 116 (G->T) | Alpha (α) 2 Point Mutation |
| Hb Lleida | Alpha (α) 2 Point Mutation |
| Hb Cervantes/ Codon 118 (ACC->ATC) | Alpha (α) 2 Point Mutation |
| Codon 115 (-GAGTTCACCCC) | Alpha (α) 2 Point Mutation |
| Hb Westmead/ Codon 122 (CAC->CAG) | Alpha (α) 2 Point Mutation |
| Hb Quong Sze/ Codon 125 (CTG->CCG) | Alpha (α) 2 Point Mutation |
| Hb Utrecht/ Codon 129 (CTG->CCG) | Alpha (α) 2 Point Mutation |
| Hb Sun Prairie/ Codon 130 GCT->CCT) | Alpha (α) 2 Point Mutation |
| Hb Questembert/ Codon 131 (TCT->CCT) | Alpha (α) 2 Point Mutation |
| Hb Seal Rock/ Codon 142 TAA->GAA) | Alpha (α) 2 Point Mutation |
| Hb Koya Dora/ Codon 142 (TAA->TCA) | Alpha (α) 2 Point Mutation |
| Hb Constant Spring/ Codon 142 TAA->CAA) | Alpha (α) 2 Point Mutation |
| Hb Paksé/ Codon 142 (TAA->TAT) | Alpha (α) 2 Point Mutation |
| Hb Icaria/ Codon 142 (TAA->AAA) | Alpha (α) 2 Point Mutation |
| 3'UTR (-16 bp) | Alpha (α) 2 Point Mutation |
| Poly A (A->C) AATAAA->AATAAC | Alpha (α) 2 Point Mutation |
| Poly A (A->G) AATAAA->AATGAA | Alpha (α) 2 Point Mutation |
| Poly A (A->G);AATAAA->AATAAG | Alpha (α) 2 Point Mutation |
| Poly A; AATAAA->AATA- - | Alpha (α) 2 Point Mutation |
| -88 (C->T) | Beta (β) Point Mutation |
| -88 (C->G) | Beta (β) Point Mutation |
| -88 (C->A) | Beta (β) Point Mutation |
| -87 (C->T) | Beta (β) Point Mutation |
| -87 (C->G) | Beta (β) Point Mutation |
| -87 (C->A) | Beta (β) Point Mutation |
| -86 (C->G) | Beta (β) Point Mutation |
| -86 (C->A) | Beta (β) Point Mutation |
| -77 (G->C) | Beta (β) Point Mutation |
| -72 (T->A) | Beta (β) Point Mutation |
| -71 (C->T) | Beta (β) Point Mutation |
| -50 (G->A) | Beta (β) Point Mutation |
| -32 (C->T) | Beta (β) Point Mutation |
| -32 (C->A) | Beta (β) Point Mutation |
| -31 (A->G) | Beta (β) Point Mutation |
| -31 (A->C) | Beta (β) Point Mutation |
| -30 (T->G) | Beta (β) Point Mutation |
| -30 (T->C) | Beta (β) Point Mutation |
| -30 (T->A) | Beta (β) Point Mutation |
| -29 (A->G) | Beta (β) Point Mutation |
| -28 (A->G) | Beta (β) Point Mutation |
| -28 (A->C) | Beta (β) Point Mutation |
| -27 (-AA) | Beta (β) Point Mutation |
| -26 (A->C) | Beta (β) Point Mutation |
| -25 (G->C) | Beta (β) Point Mutation |
| CAP +1 (A->C) | Beta (β) Point Mutation |
| 5'UTR; +10 (-T) | Beta (β) Point Mutation |
| 5'UTR; +20 (C->T) | Beta (β) Point Mutation |
| 5'UTR; +22 (G->A) | Beta (β) Point Mutation |
| 5'UTR; +33 (C->G) | Beta (β) Point Mutation |
| 5'UTR; +43 to +40 (-AAAC) | Beta (β) Point Mutation |
| Initiation codon ATG->ACG | Beta (β) Point Mutation |
| Initiation codon ATG->AGG | Beta (β) Point Mutation |
| Initiation codon ATG->ATA | Beta (β) Point Mutation |
| Initiation codon ATG->ATC | Beta (β) Point Mutation |
| Initiation codon ATG->ATT | Beta (β) Point Mutation |
| Initiation codon ATG->GTG | Beta (β) Point Mutation |
| Initiation codon T>A | Beta (β) Point Mutation |
| Codon 1 (-G) | Beta (β) Point Mutation |
| HBB: c.8delA (Codon 2 CAT->C-T) | Beta (β) Point Mutation |
| Codons 2/3/4 (-9 bp; +31 bp); | Beta (β) Point Mutation |
| Hb Antalya / Codon 3 (+T); Codon 5 (-C) | Beta (β) Point Mutation |
| Codon 5 (-CT) | Beta (β) Point Mutation |
| Codons 5/6 (-TG) | Beta (β) Point Mutation |
| Codon 6 (-A) | Beta (β) Point Mutation |
| Codons 7/8 (+G) | Beta (β) Point Mutation |
| Codons 8/9 (+AGAA) | Beta (β) Point Mutation |
| Codon 8 (-AA) | Beta (β) Point Mutation |
| Codons 8/9 (+G) | Beta (β) Point Mutation |
| Codons 9/10 (+T) | Beta (β) Point Mutation |
| Codon 10 (C->A) | Beta (β) Point Mutation |
| Codon 11 (-T) | Beta (β) Point Mutation |
| HBB: c.20_45del26 | Beta (β) Point Mutation |
| Codon 15 (-T) | Beta (β) Point Mutation |
| Codons 14/15 (+G) | Beta (β) Point Mutation |
| Codon 15 (G->A) ; TGG->TAG | Beta (β) Point Mutation |
| Codon 15 (G->A) ; TGG->TGA | Beta (β) Point Mutation |
| Codon 16 (-C) | Beta (β) Point Mutation |
| Codon 17 (A->T) | Beta (β) Point Mutation |
| Hb Ede / Codon 17 AAG->ATG | Beta (β) Point Mutation |
| Hb Malay / Codon 19 (A->G) | Beta (β) Point Mutation |
| Codon 22 (G->T) | Beta (β) Point Mutation |
| Codon 24; GGT(Gly); (-G; +CAC) | Beta (β) Point Mutation |
| Codons 22/23/24 (-AAGTTGG) | Beta (β) Point Mutation |
| Codon 24 (T->A) | Beta (β) Point Mutation |
| Codons 24/25 (-GGT) | Beta (β) Point Mutation |
| Codons 25/26 (+T) | Beta (β) Point Mutation |
| Codon 26 (G->T) | Beta (β) Point Mutation |
| Hb E / Codon 26 (G->A) | Beta (β) Point Mutation |
| Codon 26 (+T) | Beta (β) Point Mutation |
| Hb Knossos / Codon 27 (G->T) | Beta (β) Point Mutation |
| Codon 28 (-C) | Beta (β) Point Mutation |
| Codons 27/28 (+C) | Beta (β) Point Mutation |
| 44 bp deletion | Beta (β) Point Mutation |
| Hb Chesterfield / Codon 28 (T->G) | Beta (β) Point Mutation |
| Codons 28/29 (-G) | Beta (β) Point Mutation |
| Codon 29 (C->T) | Beta (β) Point Mutation |
| Codon 30 (A->C) | Beta (β) Point Mutation |
| Hb Monroe/ Hb Kairouan/ Codon 30 (G->C) | Beta (β) Point Mutation |
| Codon 30 (A->G) | Beta (β) Point Mutation |
| Codon 30 (G->A) | Beta (β) Point Mutation |
| IVS-I-1 (G->A) | Beta (β) Point Mutation |
| IVS-I-1 (G->T) | Beta (β) Point Mutation |
| IVS-I-2 (T->A) | Beta (β) Point Mutation |
| IVS-I-2 (T->C) | Beta (β) Point Mutation |
| IVS-I-2 (T->G) | Beta (β) Point Mutation |
| IVS-I-5 (G->A) | Beta (β) Point Mutation |
| IVS-I-5 (G->C) | Beta (β) Point Mutation |
| IVS-I-5 (G->T) | Beta (β) Point Mutation |
| IVS-I-6 (T->C) | Beta (β) Point Mutation |
| IVS-I-7 (A->T) | Beta (β) Point Mutation |
| IVS-I-110 (G->A) | Beta (β) Point Mutation |
| 25 bp deletion | Beta (β) Point Mutation |
| IVS-I-116 (T->G) | Beta (β) Point Mutation |
| IVS-I-128 (T->G) | Beta (β) Point Mutation |
| IVS-I-129 (A->C) | Beta (β) Point Mutation |
| IVS-I-129 (A->G) | Beta (β) Point Mutation |
| IVS-I, 3' end; -17 bp | Beta (β) Point Mutation |
| IVS-I-130 (G->A) | Beta (β) Point Mutation |
| IVS-I-130 (G->C) | Beta (β) Point Mutation |
| Codon 30 (AGG->AGC) | Beta (β) Point Mutation |
| Codon 31 (-C); CTG->-TG | Beta (β) Point Mutation |
| Codons 31/32 (+CGG) | Beta (β) Point Mutation |
| Hb Medicine Lake / Codon 32 (T->A) & Codon 98 (G->A) | Beta (β) Point Mutation |
| Codons 33/34 (-GTG) | Beta (β) Point Mutation |
| Codon 35 (C->A) | Beta (β) Point Mutation |
| Codon 35 (-C) | Beta (β) Point Mutation |
| Codons 36/37 (-T) | Beta (β) Point Mutation |
| Codon 37 (TGG->TGA) | Beta (β) Point Mutation |
| Codon 37 (TGG>TAG) | Beta (β) Point Mutation |
| Codons 38/39 (-C) | Beta (β) Point Mutation |
| Codons 38/39 (-CC) | Beta (β) Point Mutation |
| Codon 39 (C->T) | Beta (β) Point Mutation |
| Codon 39 (-A) | Beta (β) Point Mutation |
| Codons 37/38/39 (-7 nts) | Beta (β) Point Mutation |
| Codon 40 (-G) | Beta (β) Point Mutation |
| Codons 40/41 (+T) | Beta (β) Point Mutation |
| Codon 41 (-C) | Beta (β) Point Mutation |
| Codons 41/42 (-TTCT) | Beta (β) Point Mutation |
| Hb Yala / Codon 42 (TTT->TT-) | Beta (β) Point Mutation |
| Codons 42/43 (+G) | Beta (β) Point Mutation |
| Codons 42/43 (+T) | Beta (β) Point Mutation |
| Codon 43 (G->T) | Beta (β) Point Mutation |
| Codon 44 (-C) | Beta (β) Point Mutation |
| Codon 45 (-T) | Beta (β) Point Mutation |
| Codons 46/47 (+G) | Beta (β) Point Mutation |
| Codon 47 (+A) | Beta (β) Point Mutation |
| Codons 47/48 (+ATCT) | Beta (β) Point Mutation |
| Codon 51 (-C) | Beta (β) Point Mutation |
| Codon 52 (-A) | Beta (β) Point Mutation |
| Codons 53/54 (+G) | Beta (β) Point Mutation |
| Codon 54 (-T) | Beta (β) Point Mutation |
| Hb Martinez / Codon 49-55 (-19bp; +4bp) | Beta (β) Point Mutation |
| Codons 54/55 (+A) | Beta (β) Point Mutation |
| Codons 57/58 (+C) | Beta (β) Point Mutation |
| Codon 58 (-C) | Beta (β) Point Mutation |
| HBB: c.166_178del13 | Beta (β) Point Mutation |
| Codon 59 (-A) | Beta (β) Point Mutation |
| Codon 59 (AAG>TAG) | Beta (β) Point Mutation |
| Hb Cagliari/ Codon 60 (T->A) | Beta (β) Point Mutation |
| Codons 56/57/58/59/60 (GGCAACCCTAAGGTG); duplication of 14 bp | Beta (β) Point Mutation |
| Codon 61 (A->T) | Beta (β) Point Mutation |
| Codon 64 (-G) | Beta (β) Point Mutation |
| HBB: c.189_195delTCATGGC | Beta (β) Point Mutation |
| Codon 67 (-TG) | Beta (β) Point Mutation |
| HBB: c.216delT | Beta (β) Point Mutation |
| Codons 71/72 (+A) | Beta (β) Point Mutation |
| Codons 71/72 (+T) | Beta (β) Point Mutation |
| Codons 72/73 (+T) | Beta (β) Point Mutation |
| Codons 72/73; -AGTGA, +T | Beta (β) Point Mutation |
| Codons 74/75 (-C) | Beta (β) Point Mutation |
| Codon 76 (-C) | Beta (β) Point Mutation |
| Codon 76 (-GC) | Beta (β) Point Mutation |
| Codons 77/78 (-C) | Beta (β) Point Mutation |
| Codon 84 (65bp duplication) | Beta (β) Point Mutation |
| Codons 82/83 (-G) | Beta (β) Point Mutation |
| HBB: c.187_251dup | Beta (β) Point Mutation |
| Codons 84/85 (+C) | Beta (β) Point Mutation |
| Codons 84/85/86 (+T) | Beta (β) Point Mutation |
| Codon 88 (-CT) | Beta (β) Point Mutation |
| Codon 88 (+T) | Beta (β) Point Mutation |
| Codons 89/90 (-GT) | Beta (β) Point Mutation |
| Codon 90 (G->T) | Beta (β) Point Mutation |
| Hb MorganTown / Codon 91 (-T) | Beta (β) Point Mutation |
| Hb Agnana / Codon 94 (+TG) | Beta (β) Point Mutation |
| Codon 95 (+A) | Beta (β) Point Mutation |
| Codon 100; -CTT, +TCTGAGAACTT | Beta (β) Point Mutation |
| Codon 104 (-G) | Beta (β) Point Mutation |
| IVS II-1 (G->T) | Beta (β) Point Mutation |
| IVS-II-1 (G->A) | Beta (β) Point Mutation |
| IVS-II-1 (G->C) | Beta (β) Point Mutation |
| IVS II-2 (T->C) | Beta (β) Point Mutation |
| IVS-II-2 (T->A) | Beta (β) Point Mutation |
| IVS-II-2,3 (+11, -2) | Beta (β) Point Mutation |
| IVS-II-4,5 (-AG) | Beta (β) Point Mutation |
| IVS-II-5 (G->C) | Beta (β) Point Mutation |
| IVS-II-2 (-TGAGTCTATGGG) | Beta (β) Point Mutation |
| 619 bp deletion | Beta (β) deletion |
| IVS-II-654 (C->T) | Beta (β) Point Mutation |
| IVS-II-705 (T->G) | Beta (β) Point Mutation |
| IVS II-726 (A->G) | Beta (β) Point Mutation |
| IVS-II-745 (C->G) | Beta (β) Point Mutation |
| IVS-II-761 (A->G) | Beta (β) Point Mutation |
| IVS-II-765 L1 | Beta (β) Point Mutation |
| IVS-II-781 (C->G) | Beta (β) Point Mutation |
| IVS-II-837 (T->G) | Beta (β) Point Mutation |
| IVS-II-843 (T->G) | Beta (β) Point Mutation |
| IVS-II-844 (C->G) | Beta (β) Point Mutation |
| IVS-II-848 (C->A) | Beta (β) Point Mutation |
| IVS-II-848 (C->G) | Beta (β) Point Mutation |
| IVS-II-849 (A->C) | Beta (β) Point Mutation |
| IVS-II-849 (A->G) | Beta (β) Point Mutation |
| IVS-II-850 (-G) | Beta (β) Point Mutation |
| IVS-II-850 (G->A) | Beta (β) Point Mutation |
| IVS-II-850 (G->C) | Beta (β) Point Mutation |
| IVS-II-850 (G->T) | Beta (β) Point Mutation |
| Codons 106/107 (+G) | Beta (β) Point Mutation |
| Hb Manhattan / Codon 109 (-G) | Beta (β) Point Mutation |
| Codon 106 (-CTGGGCAACGTG) | Beta (β) Point Mutation |
| Hb Showa-Yakushiji / Codon 110 (T->C) | Beta (β) Point Mutation |
| Codons 108/109/110/111/112 (-12 bp) | Beta (β) Point Mutation |
| Codon 112 (T->A) | Beta (β) Point Mutation |
| Hb Geneva / Codon 114 (-CT; +G) | Beta (β) Point Mutation |
| Hb Durham-N.C. / Codon 114 (CTG->CCG) | Beta (β) Point Mutation |
| Codon 114 (+TGTGCTG) | Beta (β) Point Mutation |
| Hb Hradec Kralove (or Hb HK) / Codon 115 (C->A) | Beta (β) Point Mutation |
| Codon 116 (+TGAT) | Beta (β) Point Mutation |
| Codon 117 (-C) | Beta (β) Point Mutation |
| Hb Sainte Seve / Codon 118 (-T) | Beta (β) Point Mutation |
| Codon 121 (G->T) | Beta (β) Point Mutation |
| Codons 120/121 (+A) | Beta (β) Point Mutation |
| Hb Makabe / Codon 123 (-A) | Beta (β) Point Mutation |
| Codon 124 (-A) | Beta (β) Point Mutation |
| Codon 124/125(+A) | Beta (β) Point Mutation |
| Codons 123/124/125 (-ACCCCACC) | Beta (β) Point Mutation |
| Codon 125 (-A) | Beta (β) Point Mutation |
| Codons 124-126 (+CCA) | Beta (β) Point Mutation |
| Hb Vercelli / Codon 126 (-T) | Beta (β) Point Mutation |
| Hb Dhonburi / Codon 126 (T->G) | Beta (β) Point Mutation |
| Codon 125 (-CCAGTG) | Beta (β) Point Mutation |
| Codon 127 (A->C) | Beta (β) Point Mutation |
| Codon 127 (A->G) | Beta (β) Point Mutation |
| Codon 127 (C->T) | Beta (β) Point Mutation |
| Codons 127/128 (-AGG) | Beta (β) Point Mutation |
| Codon 130 (TAT->TAA) | Beta (β) Point Mutation |
| Codon 131 (+A) | Beta (β) Point Mutation |
| Codons 126-131 (-17 bp); GTGCAGGCTGCCTATCAG->G | Beta (β) Point Mutation |
| Codon 132 (A->T) | Beta (β) Point Mutation |
| Codons 131/132 (-GA) | Beta (β) Point Mutation |
| Hb Stara Zagora / Codon 137-139 (-TGGCTA) | Beta (β) Point Mutation |
| Hb Florida / Codons 140/141 (-C) | Beta (β) Point Mutation |
| +1480 (C->G) | Beta (β) Point Mutation |
| T->C; 12 nts 5' to the poly A site or +1570 | Beta (β) Point Mutation |
| 3'UTR (-GCATCTGGATTCT) | Beta (β) Point Mutation |
| Poly A (-AT or -TA); AATAAA->A--AAA | Beta (β) Point Mutation |
| Poly A (T->C); AATAAA->AACAAA | Beta (β) Point Mutation |
| Poly A (A->G); AATAAA->AATAAG | Beta (β) Point Mutation |
| Poly A (A->G); AATAAA->AATAGA | Beta (β) Point Mutation |
| Poly A (A->G); AATAAA->AATGAA | Beta (β) Point Mutation |
| Poly A (A->T) AATAAA>AATATA | Beta (β) Point Mutation |
| Poly A (-AA) | Beta (β) Point Mutation |
| Poly A (-AATAA); AATAAA->-----A | Beta (β) Point Mutation |
| ~45 kb deletion; the Filipino deletion | Beta (β) Large Deletion |
| Hb S/ Codon 6 (A->T) | Beta (β) Point Mutation |
| Hb C/ Codon 6 (G->A) | Beta (β) Point Mutation |