Table 3.
Dysfibrinogenemia due to a frameshift mutation in the fibrinogen αC‐connector (Aα 221‐391) resulting in a truncation affecting both the connector itself and the Aα compact domain
| Name of abnormal fibrinogen | Genotype | Anomaly in the αC domain | Clinical Syndrome | Reference |
|---|---|---|---|---|
| Fibrinogen Egyptian | Homozygous | Aα (221)Q stop | Bleeding tendency | 77 |
| Fibrinogen Bulgaria | Homozygous | Aα (229)W stop | Bleeding tendency | 77 |
| Fibrinogen Algerian | Homozygous | Aα(276)W stop | Bleeding tendency | 77 |
| Fibrinogen Chinese | Homozygous | Aα (293) frameshift‐stop | Unknown | 77 |
| Fibrinogen Iran III | Unknown | Aα (297) frameshift‐stop | Bleeding | 77 |
| Fibrinogen France VII | Homozygous | Aα (297)G stop | Unknown | 77 |
| Fibrinogen France XII | Unknown | Aα (315)W stop | Bleeding & Thrombosis | 77 |
| Fibrinogen Turkey | Homozygous | Idem | Idem | 77 |
| Fibrinogen Tunisia | Homozygous | Aα (323)G frameshift stop | Bleeding | 77 |
| Fibrinogen Germany | Homozygous | Aα (327)N frame shift stop | Bleeding | 77 |
| Fibrinogen Keokuk | Heterozygous | Lack of Aα (328‐610), Aα (328)Q stop | Asymptomatic | 79 |
| Double heterozygous: Keokuk mutation plus Aα intron 4 G‐to‐T mutation | Bleeding with severe hypofibrino‐genemia, and thrombotic episodes secondary to surgery accompanied by infusion of normal fibrinogen | |||
| Fibrinogen Otago | Homozygous | Lack of Aα (272‐610). Insertion of cytosine at position 4133 producing a frameshift which translates as 3 new amino acids Q268‐E‐P before termination at position 271 | Bleeding and miscarriages | 80 |